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bioLOGIC CategoryView

bioLOGIC CategoryView



This section displays our screening results in the context of biological categories, such as pathways, disease-associated genes, and CORUM protein complexes

Please select first a Category type and then an individual category from the selection menu below.

Svestrup lab categories are categories assembled by the Svejstrup lab. Pathways are gene collections taken from the Reactome and KEGG databases. The menu Human Mutations are groups of disease-associated genes taken from the articles listed in that sub-selection. Disease phenotypes lists groups of genes associated with a particular disease. The Interpro sub-selection lists groups of genes associated with a particular Interpro domain. The CORUM sub-selection lists (biochemical) protein complexes curated in the CORUM database. The sub-selection DNA Damage Literature lists gene selections that have been highlighted by individual articles in the DNA damage literature.




Please select the category type to display by selecting one of the
Category Types:
Svejstrup Lab | Pathways | Human Mutations | Disease Phenotype | Interpro | CORUM | DNA Damage Literature
Show screen data for Category Id Category Name and Description Category Type TC-NER relevance -log10(p-value)
Category members Blackfan-Diamond anemia Blackfan-Diamond anemia Disease phenotype 2.38
Category members Hereditary breast and ovarian cancer syndrome Hereditary breast and ovarian cancer syndrome Disease phenotype 1.23
Category members Malignant migrating partial seizures of infancy Malignant migrating partial seizures of infancy Disease phenotype 1.05
Category members COFS syndrome COFS syndrome Disease phenotype 0.98
Category members Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant Emery-Dreifuss muscular dystrophy Disease phenotype 0.89
Category members Cornelia de Lange syndrome Cornelia de Lange syndrome Disease phenotype 0.87
Category members UV-sensitive syndrome UV-sensitive syndrome Disease phenotype 0.82
Category members THYROID CARCINOMA PAPILLARY THYROID CARCINOMA PAPILLARY Disease phenotype 0.72
Category members Partial chromosome Y deletion Partial chromosome Y deletion Disease phenotype 0.62
Category members BREAST CANCER BREAST CANCER Disease phenotype 0.62
Category members Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) Disease phenotype 0.6
Category members Cockayne syndrome type 2 Cockayne syndrome type 2 Disease phenotype 0.54
Category members COFFIN-SIRIS SYNDROME COFFIN-SIRIS SYNDROME Disease phenotype 0.53
Category members HOMOCYSTEINEMIA HOMOCYSTEINEMIA Disease phenotype 0.53
Category members Familial hypercholanemia Familial hypercholanemia Disease phenotype 0.49
Category members HYPERCHOLANEMIA FAMILIAL HYPERCHOLANEMIA FAMILIAL Disease phenotype 0.49
Category members MUIR-TORRE SYNDROME MUIR-TORRE SYNDROME Disease phenotype 0.46
Category members Generalized pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 Disease phenotype 0.44
Category members Coffin Siris Coffin Siris Disease phenotype 0.43
Category members Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with cerebellar involvement Disease phenotype 0.4
Category members Ear-patella-short stature syndrome Ear-patella-short stature syndrome Disease phenotype 0.4
Category members ACUTE PROMYELOCYTIC LEUKEMIA ACUTE PROMYELOCYTIC LEUKEMIA Disease phenotype 0.39
Category members LI-FRAUMENI SYNDROME 1 LI-FRAUMENI SYNDROME 1 Disease phenotype 0.37
Category members Fuchs endothelial corneal dystrophy Fuchs endothelial corneal dystrophy Disease phenotype 0.36
Category members TRICHOTHIODYSTROPHY PHOTOSENSITIVE TRICHOTHIODYSTROPHY PHOTOSENSITIVE Disease phenotype 0.35
Category members MITOCHONDRIAL COMPLEX I DEFICIENCY MITOCHONDRIAL COMPLEX I DEFICIENCY Disease phenotype 0.35
Category members Cockayne syndrome type 3 Cockayne syndrome type 3 Disease phenotype 0.33
Category members Mitochondrial non-syndromic sensorineural deafness Mitochondrial non-syndromic sensorineural deafness Disease phenotype 0.33
Category members MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE Disease phenotype 0.33
Category members Classic maple syrup urine disease Classic maple syrup urine disease Disease phenotype 0.32
Category members Familial infantile bilateral striatal necrosis Familial infantile bilateral striatal necrosis Disease phenotype 0.32
Category members Intermittent maple syrup urine disease Intermittent maple syrup urine disease Disease phenotype 0.32
Category members Juvenile amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis Disease phenotype 0.32
Category members Maple Syrup Urine Disease Maple Syrup Urine Disease Disease phenotype 0.32
Category members Thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease Disease phenotype 0.32
Category members 22q11.2 Deletion Syndrome 22q11.2 Deletion Syndrome Disease phenotype 0.31
Category members MESOTHELIOMA MALIGNANT MESOTHELIOMA MALIGNANT Disease phenotype 0.31
Category members Walker-Warburg syndrome Walker-Warburg syndrome Disease phenotype 0.3
Category members CENTRAL HYPOVENTILATION SYNDROME CONGENITAL CENTRAL HYPOVENTILATION SYNDROME CONGENITAL Disease phenotype 0.3
Category members COLORECTAL CANCER COLORECTAL CANCER Disease phenotype 0.29
Category members Acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood Disease phenotype 0.29
Category members Cockayne syndrome type 1 Cockayne syndrome type 1 Disease phenotype 0.29
Category members Deafness aminoglycoside-induced Deafness aminoglycoside-induced Disease phenotype 0.29
Category members Familial rhabdoid tumor Familial rhabdoid tumor Disease phenotype 0.29
Category members Leber congenital amaurosis Leber congenital amaurosis Disease phenotype 0.29
Category members LEOPARD SYNDROME LEOPARD SYNDROME Disease phenotype 0.29
Category members Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 4 Disease phenotype 0.29
Category members SCHWANNOMATOSIS 1 SCHWANNOMATOSIS 1 Disease phenotype 0.29
Category members Hypomyelination - hypogonadotropic hypogonadism - hypodontia Hypomyelination - hypogonadotropic hypogonadism - hypodontia Disease phenotype 0.28
Category members Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Disease phenotype 0.28
Category members RAS-associated autoimmune lymphoproliferative disease RAS-associated autoimmune lymphoproliferative disease Disease phenotype 0.28
Category members Atypical hypotonia - cystinuria syndrome Atypical hypotonia - cystinuria syndrome Disease phenotype 0.26
Category members Fanconi anemia Fanconi anemia Disease phenotype 0.26
Category members Precursor B-cell acute lymphoblastic leukemia Precursor B-cell acute lymphoblastic leukemia Disease phenotype 0.25
Category members TRICHOTHIODYSTROPHY NONPHOTOSENSITIVE 1 TRICHOTHIODYSTROPHY NONPHOTOSENSITIVE 1 Disease phenotype 0.25
Category members Seckel syndrome Seckel syndrome Disease phenotype 0.25
Category members 17p13.3 microduplication syndrome 17p13.3 microduplication syndrome Disease phenotype 0.24
Category members Arthrogryposis - renal dysfunction - cholestasis Arthrogryposis - renal dysfunction - cholestasis Disease phenotype 0.24
Category members Miller-Dieker syndrome Miller-Dieker syndrome Disease phenotype 0.24
Category members PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL RECESSIVE PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL RECESSIVE Disease phenotype 0.24
Category members WISKOTT-ALDRICH SYNDROME WISKOTT-ALDRICH SYNDROME Disease phenotype 0.24
Category members 2p21 microdeletion syndrome 2p21 microdeletion syndrome Disease phenotype 0.23
Category members Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Disease phenotype 0.23
Category members Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability Disease phenotype 0.23
Category members Hypocalcified amelogenesis imperfecta Hypocalcified amelogenesis imperfecta Disease phenotype 0.23
Category members Inflammatory myofibroblastic tumor Inflammatory myofibroblastic tumor Disease phenotype 0.23
Category members MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION) Disease phenotype 0.23
Category members OBESITY OBESITY Disease phenotype 0.23
Category members Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 2 Disease phenotype 0.23
Category members Severe autosomal dominant nocturnal frontal lobe epilepsy Severe autosomal dominant nocturnal frontal lobe epilepsy Disease phenotype 0.23
Category members NEURAL TUBE DEFECTS FOLATE-SENSITIVE NEURAL TUBE DEFECTS FOLATE-SENSITIVE Disease phenotype 0.23
Category members Acute infantile liver failure-multisystemic involvement syndrome Acute infantile liver failure-multisystemic involvement syndrome Disease phenotype 0.22
Category members Hydrolethalus Hydrolethalus Disease phenotype 0.22
Category members ICF syndrome ICF syndrome Disease phenotype 0.22
Category members IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME Disease phenotype 0.22
Category members Gastrointestinal stromal tumor Gastrointestinal stromal tumor Disease phenotype 0.22
Category members Desmoid tumor somatic Desmoid tumor somatic Disease phenotype 0.21
Category members Gaucher disease type 1 Gaucher disease type 1 Disease phenotype 0.21
Category members Myxofibrosarcoma Myxofibrosarcoma Disease phenotype 0.21
Category members POLYCYSTIC LIVER DISEASE POLYCYSTIC LIVER DISEASE Disease phenotype 0.21
Category members USHER SYNDROME TYPE ID USHER SYNDROME TYPE ID Disease phenotype 0.21
Category members ENDOMETRIAL CANCER ENDOMETRIAL CANCER Disease phenotype 0.21
Category members Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis Disease phenotype 0.21
Category members FANCONI ANEMIA COMPLEMENTATION GROUP A FANCONI ANEMIA COMPLEMENTATION GROUP A Disease phenotype 0.2
Category members OSTEOGENIC SARCOMA OSTEOGENIC SARCOMA Disease phenotype 0.2
Category members Hereditary spherocytosis Hereditary spherocytosis Disease phenotype 0.2
Category members NOONAN SYNDROME NOONAN SYNDROME Disease phenotype 0.19
Category members Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis Disease phenotype 0.18
Category members Constitutional mismatch repair deficiency syndrome Constitutional mismatch repair deficiency syndrome Disease phenotype 0.18
Category members CYSTINURIA CYSTINURIA Disease phenotype 0.18
Category members Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 Disease phenotype 0.18
Category members Familial congenital mirror movements Familial congenital mirror movements Disease phenotype 0.18
Category members Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Disease phenotype 0.18
Category members Hypercalcemic tumoral calcinosis Hypercalcemic tumoral calcinosis Disease phenotype 0.18
Category members LIDDLE SYNDROME LIDDLE SYNDROME Disease phenotype 0.18
Category members MISMATCH REPAIR CANCER SYNDROME MISMATCH REPAIR CANCER SYNDROME Disease phenotype 0.18
Category members Nonpolyposis Turcot syndrome Nonpolyposis Turcot syndrome Disease phenotype 0.18
Category members Pontocerebellar Hypoplasia Type 2 and Type 4 Pontocerebellar Hypoplasia Type 2 and Type 4 Disease phenotype 0.18
Category members SYNPOLYDACTYLY 2 SYNPOLYDACTYLY 2 Disease phenotype 0.18
Category members TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL Disease phenotype 0.18
Category members Waardenburg syndrome type 2 Waardenburg syndrome type 2 Disease phenotype 0.18
Category members Isolated NADH-CoQ reductase deficiency Isolated NADH-CoQ reductase deficiency Disease phenotype 0.17
Category members Idiopathic bronchiectasis Idiopathic bronchiectasis Disease phenotype 0.17
Category members Periventricular nodular heterotopia Periventricular nodular heterotopia Disease phenotype 0.17
Category members SEVERE CUTANEOUS ADVERSE REACTION SUSCEPTIBILITY TO SEVERE CUTANEOUS ADVERSE REACTION SUSCEPTIBILITY TO Disease phenotype 0.17
Category members Atelosteogenesis type II Atelosteogenesis type II Disease phenotype 0.15
Category members BARE LYMPHOCYTE SYNDROME TYPE I BARE LYMPHOCYTE SYNDROME TYPE I Disease phenotype 0.15
Category members Keratosis palmoplantaris striata Keratosis palmoplantaris striata Disease phenotype 0.15
Category members AFIBRINOGENEMIA CONGENITAL AFIBRINOGENEMIA CONGENITAL Disease phenotype 0.14
Category members Familial afibrinogenemia Familial afibrinogenemia Disease phenotype 0.14
Category members Familial dysfibrinogenemia Familial dysfibrinogenemia Disease phenotype 0.14
Category members Familial hypodysfibrinogenemia Familial hypodysfibrinogenemia Disease phenotype 0.14
Category members Familial hypofibrinogenemia Familial hypofibrinogenemia Disease phenotype 0.14
Category members Giant cell glioblastoma Giant cell glioblastoma Disease phenotype 0.14
Category members Gliosarcoma Gliosarcoma Disease phenotype 0.14
Category members Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer Disease phenotype 0.14
Category members Leber hereditary optic neuropathy Leber hereditary optic neuropathy Disease phenotype 0.13
Category members LEBER OPTIC ATROPHY LEBER OPTIC ATROPHY Disease phenotype 0.13
Category members AMYLOIDOSIS FAMILIAL VISCERAL AMYLOIDOSIS FAMILIAL VISCERAL Disease phenotype 0.13
Category members 46XY GONADAL DYSGENESIS PARTIAL WITH MINIFASCICULAR NEUROPATHY 46XY GONADAL DYSGENESIS PARTIAL WITH MINIFASCICULAR NEUROPATHY Disease phenotype 0.13
Category members Congenital diaphragmatic hernia Congenital diaphragmatic hernia Disease phenotype 0.13
Category members Kabuki syndrome Kabuki syndrome Disease phenotype 0.13
Category members LYMPHANGIOLEIOMYOMATOSIS LYMPHANGIOLEIOMYOMATOSIS Disease phenotype 0.13
Category members Maffucci syndrome Maffucci syndrome Disease phenotype 0.13
Category members Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 3 Disease phenotype 0.13
Category members PARIETAL FORAMINA PARIETAL FORAMINA Disease phenotype 0.13
Category members PROPIONIC ACIDEMIA PROPIONIC ACIDEMIA Disease phenotype 0.13
Category members Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Disease phenotype 0.13
Category members SYSTEMIC LUPUS ERYTHEMATOSUS SYSTEMIC LUPUS ERYTHEMATOSUS Disease phenotype 0.13
Category members Tuberous sclerosis Tuberous sclerosis Disease phenotype 0.13
Category members Ewing sarcoma Ewing sarcoma Disease phenotype 0.13
Category members LUNG CANCER LUNG CANCER Disease phenotype 0.12
Category members Achromatopsia Achromatopsia Disease phenotype 0.11
Category members Autosomal recessive spastic paraplegia type 20 Autosomal recessive spastic paraplegia type 20 Disease phenotype 0.11
Category members HYPOPLASTIC LEFT HEART SYNDROME HYPOPLASTIC LEFT HEART SYNDROME Disease phenotype 0.11
Category members Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis Disease phenotype 0.11
Category members LEUKEMIA ACUTE LYMPHOBLASTIC LEUKEMIA ACUTE LYMPHOBLASTIC Disease phenotype 0.11
Category members Melanoma of soft parts Melanoma of soft parts Disease phenotype 0.11
Category members Muscle eye brain disease Muscle eye brain disease Disease phenotype 0.11
Category members SALIVARY GLAND ADENOMA PLEOMORPHIC SALIVARY GLAND ADENOMA PLEOMORPHIC Disease phenotype 0.11
Category members SPERMATOGENIC FAILURE Y-LINKED 2 SPERMATOGENIC FAILURE Y-LINKED 2 Disease phenotype 0.11
Category members TETRALOGY OF FALLOT TETRALOGY OF FALLOT Disease phenotype 0.11
Category members Micro syndrome Micro syndrome Disease phenotype 0.11
Category members Perrault syndrome Perrault syndrome Disease phenotype 0.11
Category members INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT Disease phenotype 0.11
Category members Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Disease phenotype 0.11
Category members Hyperlipoproteinemia type 5 Hyperlipoproteinemia type 5 Disease phenotype 0.1
Category members HYPERTRIGLYCERIDEMIA FAMILIAL HYPERTRIGLYCERIDEMIA FAMILIAL Disease phenotype 0.1
Category members MACULAR DEGENERATION AGE-RELATED 1 MACULAR DEGENERATION AGE-RELATED 1 Disease phenotype 0.1
Category members Treacher-Collins syndrome Treacher-Collins syndrome Disease phenotype 0.09
Category members HEPATOCELLULAR CARCINOMA HEPATOCELLULAR CARCINOMA Disease phenotype 0.09
Category members Leigh syndrome with cardiomyopathy Leigh syndrome with cardiomyopathy Disease phenotype 0.09
Category members PILOCYTIC ASTROCYTOMA SOMATIC PILOCYTIC ASTROCYTOMA SOMATIC Disease phenotype 0.09
Category members Craniopharyngioma Craniopharyngioma Disease phenotype 0.09
Category members DUCHENNE MUSCULAR DYSTROPHY DUCHENNE MUSCULAR DYSTROPHY Disease phenotype 0.09
Category members Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 2 Disease phenotype 0.09
Category members Immunodeficiency due to a late component of complements deficiency Immunodeficiency due to a late component of complements deficiency Disease phenotype 0.09
Category members MODY syndrome MODY syndrome Disease phenotype 0.09
Category members SMITH-MAGENIS SYNDROME SMITH-MAGENIS SYNDROME Disease phenotype 0.09
Category members Papillary or follicular thyroid carcinoma Papillary or follicular thyroid carcinoma Disease phenotype 0.09
Category members Familial isolated dilated cardiomyopathy Familial isolated dilated cardiomyopathy Disease phenotype 0.08
Category members Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia Disease phenotype 0.08
Category members Intermediate maple syrup urine disease Intermediate maple syrup urine disease Disease phenotype 0.08
Category members Medulloblastoma Medulloblastoma Disease phenotype 0.08
Category members 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria Disease phenotype 0.08
Category members Acrodermatitis continua suppurativa of Hallopeau Acrodermatitis continua suppurativa of Hallopeau Disease phenotype 0.08
Category members Autosomal dominant non-syndromic intellectual disability Autosomal dominant non-syndromic intellectual disability Disease phenotype 0.08
Category members Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 1 Disease phenotype 0.08
Category members Autosomal thrombocytopenia with normal platelets Autosomal thrombocytopenia with normal platelets Disease phenotype 0.08
Category members Crouzon disease Crouzon disease Disease phenotype 0.08
Category members Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma Disease phenotype 0.08
Category members GASTRIC CANCER HEREDITARY DIFFUSE GASTRIC CANCER HEREDITARY DIFFUSE Disease phenotype 0.08
Category members Generalized pustular psoriasis Generalized pustular psoriasis Disease phenotype 0.08
Category members Genetic recurrent myoglobinuria Genetic recurrent myoglobinuria Disease phenotype 0.08
Category members Grasbeck-Imerslund disease Grasbeck-Imerslund disease Disease phenotype 0.08
Category members hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome Disease phenotype 0.08
Category members Hypotonia - cystinuria syndrome Hypotonia - cystinuria syndrome Disease phenotype 0.08
Category members Joubert syndrome with ocular defect Joubert syndrome with ocular defect Disease phenotype 0.08
Category members Leigh syndrome with leukodystrophy Leigh syndrome with leukodystrophy Disease phenotype 0.08
Category members MEGALOBLASTIC ANEMIA 1 MEGALOBLASTIC ANEMIA 1 Disease phenotype 0.08
Category members Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome Disease phenotype 0.08
Category members Neuroblastoma Neuroblastoma Disease phenotype 0.08
Category members Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome Disease phenotype 0.08
Category members Presynaptic congenital myasthenic syndromes Presynaptic congenital myasthenic syndromes Disease phenotype 0.08
Category members Pustulosis palmaris et plantaris Pustulosis palmaris et plantaris Disease phenotype 0.08
Category members Septo-optic dysplasia Septo-optic dysplasia Disease phenotype 0.08
Category members X-linked lymphoproliferative disease X-linked lymphoproliferative disease Disease phenotype 0.08
Category members Bifunctional enzyme deficiency Bifunctional enzyme deficiency Disease phenotype 0.08
Category members Fraser syndrome (FRASS) Fraser syndrome (FRASS) Disease phenotype 0.08
Category members MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE Disease phenotype 0.08
Category members Neurofibromatosis type 3 Neurofibromatosis type 3 Disease phenotype 0.08
Category members Early infantile epileptic encephalopathy 5 Early infantile epileptic encephalopathy 5 Disease phenotype 0.07
Category members FRASER SYNDROME FRASER SYNDROME Disease phenotype 0.07
Category members JOUBERT SYNDROME JOUBERT SYNDROME Disease phenotype 0.07
Category members Familial prostate cancer Familial prostate cancer Disease phenotype 0.07
Category members Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial neurogastrointestinal encephalomyopathy Disease phenotype 0.07
Category members Familial pancreatic carcinoma Familial pancreatic carcinoma Disease phenotype 0.06
Category members CARDIOFACIOCUTANEOUS SYNDROME CARDIOFACIOCUTANEOUS SYNDROME Disease phenotype 0.06
Category members cardiofaciocutaneous syndrome (CFC syndrome) cardiofaciocutaneous syndrome (CFC syndrome) Disease phenotype 0.06
Category members Nonspecific severe ID Nonspecific severe ID Disease phenotype 0.06
Category members ALZHEIMER DISEASE SUSCEPTIBILITY TO MITOCHONDRIAL ALZHEIMER DISEASE SUSCEPTIBILITY TO MITOCHONDRIAL Disease phenotype 0.05
Category members DIABETES MELLITUS NONINSULIN-DEPENDENT DIABETES MELLITUS NONINSULIN-DEPENDENT Disease phenotype 0.05
Category members Digitotalar dysmorphism Digitotalar dysmorphism Disease phenotype 0.05
Category members ESOPHAGEAL CANCER ESOPHAGEAL CANCER Disease phenotype 0.05
Category members Familial isolated arrhythmogenic ventricular dysplasia biventricular form Familial isolated arrhythmogenic ventricular dysplasia biventricular form Disease phenotype 0.05
Category members Familial isolated arrhythmogenic ventricular dysplasia left dominant form Familial isolated arrhythmogenic ventricular dysplasia left dominant form Disease phenotype 0.05
Category members Familial isolated arrhythmogenic ventricular dysplasia right dominant form Familial isolated arrhythmogenic ventricular dysplasia right dominant form Disease phenotype 0.05
Category members Hemimegalencephaly Hemimegalencephaly Disease phenotype 0.05
Category members PULMONARY FIBROSIS IDIOPATHIC PULMONARY FIBROSIS IDIOPATHIC Disease phenotype 0.05
Category members X-linked intellectual disability with marfanoid habitus X-linked intellectual disability with marfanoid habitus Disease phenotype 0.05
Category members Aicardi-Goutieres Syndrome Aicardi-Goutieres Syndrome Disease phenotype 0.05
Category members Isolated anophthalmia - microphthalmia Isolated anophthalmia - microphthalmia Disease phenotype 0.05
Category members Behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia Disease phenotype 0.04
Category members CYSTIC FIBROSIS CYSTIC FIBROSIS Disease phenotype 0.04
Category members Li-Fraumeni syndrome Li-Fraumeni syndrome Disease phenotype 0.04
Category members Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 Disease phenotype 0.04
Category members PETERS ANOMALY PETERS ANOMALY Disease phenotype 0.04
Category members Progressive non-fluent aphasia Progressive non-fluent aphasia Disease phenotype 0.04
Category members Semantic dementia Semantic dementia Disease phenotype 0.04
Category members Agnathia - holoprosencephaly - situs inversus Agnathia - holoprosencephaly - situs inversus Disease phenotype 0.04
Category members Autosomal recessive early-onset inflammatory bowel disease Autosomal recessive early-onset inflammatory bowel disease Disease phenotype 0.04
Category members Clear cell renal carcinoma Clear cell renal carcinoma Disease phenotype 0.04
Category members Early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease Disease phenotype 0.04
Category members Ehlers-Danlos syndrome progeroid type Ehlers-Danlos syndrome progeroid type Disease phenotype 0.04
Category members EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA TYPE EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA TYPE Disease phenotype 0.04
Category members EPIDERMOLYSIS BULLOSA SIMPLEX GENERALIZED EPIDERMOLYSIS BULLOSA SIMPLEX GENERALIZED Disease phenotype 0.04
Category members EPIDERMOLYSIS BULLOSA SIMPLEX LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX LOCALIZED Disease phenotype 0.04
Category members EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION Disease phenotype 0.04
Category members FAMILIAL ADVANCED SLEEP-PHASE SYNDROME FAMILIAL ADVANCED SLEEP-PHASE SYNDROME Disease phenotype 0.04
Category members Familial glucocorticoid deficiency Familial glucocorticoid deficiency Disease phenotype 0.04
Category members Generalized epidermolysis bullosa simplex non-Dowling-Meara type Generalized epidermolysis bullosa simplex non-Dowling-Meara type Disease phenotype 0.04
Category members HEREDITARY HEMORRHAGIC TELANGIECTASIA HEREDITARY HEMORRHAGIC TELANGIECTASIA Disease phenotype 0.04
Category members Hypokalemic periodic paralysis Hypokalemic periodic paralysis Disease phenotype 0.04
Category members Infantile Krabbe disease Infantile Krabbe disease Disease phenotype 0.04
Category members Localized epidermolysis bullosa simplex Localized epidermolysis bullosa simplex Disease phenotype 0.04
Category members Male infertility due to globozoospermia Male infertility due to globozoospermia Disease phenotype 0.04
Category members Maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 14 Disease phenotype 0.04
Category members Milroy Disease Milroy Disease Disease phenotype 0.04
Category members MYCOBACTERIUM TUBERCULOSIS SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS SUSCEPTIBILITY TO Disease phenotype 0.04
Category members Narcolepsy without cataplexy Narcolepsy without cataplexy Disease phenotype 0.04
Category members OSTEOPOROSIS OSTEOPOROSIS Disease phenotype 0.04
Category members PAGET DISEASE OF BONE PAGET DISEASE OF BONE Disease phenotype 0.04
Category members Paternal uniparental disomy of chromosome 14 Paternal uniparental disomy of chromosome 14 Disease phenotype 0.04
Category members PENDRED SYNDROME PENDRED SYNDROME Disease phenotype 0.04
Category members Posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy Disease phenotype 0.04
Category members Refsum disease Refsum disease Disease phenotype 0.04
Category members Intellectual disability Intellectual disability Disease phenotype 0.04
Category members ANGELMAN SYNDROME ANGELMAN SYNDROME Disease phenotype 0.04
Category members Congenital fiber-type disproportion myopathy Congenital fiber-type disproportion myopathy Disease phenotype 0.04
Category members 17q11 microdeletion syndrome 17q11 microdeletion syndrome Disease phenotype 0.04
Category members Adams Oliver syndrome Adams Oliver syndrome Disease phenotype 0.04
Category members ASTHMA SUSCEPTIBILITY TO ASTHMA SUSCEPTIBILITY TO Disease phenotype 0.04
Category members Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Disease phenotype 0.04
Category members Autosomal recessive nonsyndromic sensorineural deafness type DFNB Autosomal recessive nonsyndromic sensorineural deafness type DFNB Disease phenotype 0.04
Category members BARRETT ESOPHAGUS BARRETT ESOPHAGUS Disease phenotype 0.04
Category members cataract autosomal dominant (ADC) cataract autosomal dominant (ADC) Disease phenotype 0.04
Category members Cerebro-facio-articular syndrome Cerebro-facio-articular syndrome Disease phenotype 0.04
Category members Congenital nonbullous ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Disease phenotype 0.04
Category members Distal monosomy 3p Distal monosomy 3p Disease phenotype 0.04
Category members HYPERGLYCINURIA HYPERGLYCINURIA Disease phenotype 0.04
Category members Inherited congenital spastic tetraplegia Inherited congenital spastic tetraplegia Disease phenotype 0.04
Category members intellectual disability - sparse hair - brachydactyly intellectual disability - sparse hair - brachydactyly Disease phenotype 0.04
Category members Leigh Syndrome (nuclear DNA mutation) Leigh Syndrome (nuclear DNA mutation) Disease phenotype 0.04
Category members Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus Disease phenotype 0.04
Category members Metaphyseal anadysplasia Metaphyseal anadysplasia Disease phenotype 0.04
Category members periventricular neuronal heterotopia periventricular neuronal heterotopia Disease phenotype 0.04
Category members Progressive cone dystrophy Progressive cone dystrophy Disease phenotype 0.04
Category members Tropical pancreatitis Tropical pancreatitis Disease phenotype 0.04
Category members COWDEN SYNDROME COWDEN SYNDROME Disease phenotype 0.03
Category members Joubert syndrome with oculorenal defect Joubert syndrome with oculorenal defect Disease phenotype 0.03
Category members HISTIOCYTOMA ANGIOMATOID FIBROUS HISTIOCYTOMA ANGIOMATOID FIBROUS Disease phenotype 0.03
Category members Senior-Loken syndrome Senior-Loken syndrome Disease phenotype 0.02
Category members Isolated polycystic liver disease Isolated polycystic liver disease Disease phenotype 0.01
Category members MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY Disease phenotype 0.01
Category members Multiple acyl-CoA dehydrogenation deficiency mild type Multiple acyl-CoA dehydrogenation deficiency mild type Disease phenotype 0.01
Category members Multiple acyl-CoA dehydrogenation deficiency severe neonatal type Multiple acyl-CoA dehydrogenation deficiency severe neonatal type Disease phenotype 0.01
Category members X-linked non-syndromic intellectual disability X-linked non-syndromic intellectual disability Disease phenotype 0.01
Category members Maternally-inherited Leigh syndrome Maternally-inherited Leigh syndrome Disease phenotype 0.01
Category members OVARIAN CANCER OVARIAN CANCER Disease phenotype 0.01
Category members B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia Disease phenotype 0.01
Category members Cranioectodermal dysplasia Cranioectodermal dysplasia Disease phenotype 0.01
Category members MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME; MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME; Disease phenotype 0.01
Category members 12q14 microdeletion syndrome 12q14 microdeletion syndrome Disease phenotype 0
Category members 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome Disease phenotype 0
Category members 1p36 deletion syndrome 1p36 deletion syndrome Disease phenotype 0
Category members 3-Methylglutaconic aciduria type 3 3-Methylglutaconic aciduria type 3 Disease phenotype 0
Category members 3M syndrome 3M syndrome Disease phenotype 0
Category members 46XX gonadal dysgenesis 46XX gonadal dysgenesis Disease phenotype 0
Category members 46XX ovotesticular disorder of sex development 46XX ovotesticular disorder of sex development Disease phenotype 0
Category members 46XX testicular disorder of sex development 46XX testicular disorder of sex development Disease phenotype 0
Category members 46XY complete gonadal dysgenesis 46XY complete gonadal dysgenesis Disease phenotype 0
Category members 46XY disorder of sex development due to isolated 17 20 lyase deficiency 46XY disorder of sex development due to isolated 17 20 lyase deficiency Disease phenotype 0
Category members 46XY partial gonadal dysgenesis 46XY partial gonadal dysgenesis Disease phenotype 0
Category members Acrocallosal syndrome Acrocallosal syndrome Disease phenotype 0
Category members Acrodysostosis Acrodysostosis Disease phenotype 0
Category members Acrodysostosis with multiple hormone resistance Acrodysostosis with multiple hormone resistance Disease phenotype 0
Category members Acrofacial dysostosis Weyers type Acrofacial dysostosis Weyers type Disease phenotype 0
Category members acrofacial dysostosis Weyers type (WAD) acrofacial dysostosis Weyers type (WAD) Disease phenotype 0
Category members ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA Disease phenotype 0
Category members Acute basophilic leukemia Acute basophilic leukemia Disease phenotype 0
Category members Acute myeloblastic leukemia without maturation Acute myeloblastic leukemia without maturation Disease phenotype 0
Category members Acute myeloblastic leukemia with maturation Acute myeloblastic leukemia with maturation Disease phenotype 0
Category members Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Disease phenotype 0
Category members Acute myeloid leukemia with t(8;16)(p11;p13) translocation Acute myeloid leukemia with t(8;16)(p11;p13) translocation Disease phenotype 0
Category members Acute myeloid leukemia with t(8;21)(q22;q22) translocation Acute myeloid leukemia with t(8;21)(q22;q22) translocation Disease phenotype 0
Category members Acute myelomonocytic leukemia Acute myelomonocytic leukemia Disease phenotype 0
Category members ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF Disease phenotype 0
Category members Adams-Oliver syndrome Adams-Oliver syndrome Disease phenotype 0
Category members Adenosine monophosphate deaminase deficiency Adenosine monophosphate deaminase deficiency Disease phenotype 0
Category members adrenoleukodystrophy neonatal (NALD) adrenoleukodystrophy neonatal (NALD) Disease phenotype 0
Category members Adult-onset autosomal recessive sideroblastic anemia Adult-onset autosomal recessive sideroblastic anemia Disease phenotype 0
Category members Adult-onset foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy Disease phenotype 0
Category members Agenesis of the corpus callosum with mental retardation-ocular coloboma-micrognathia (ACCMRCM) Agenesis of the corpus callosum with mental retardation-ocular coloboma-micrognathia (ACCMRCM) Disease phenotype 0
Category members ALCOHOL DEPENDENCE ALCOHOL DEPENDENCE Disease phenotype 0
Category members Alobar holoprosencephaly Alobar holoprosencephaly Disease phenotype 0
Category members Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis Disease phenotype 0
Category members ALTERNATING HEMIPLEGIA OF CHILDHOOD ALTERNATING HEMIPLEGIA OF CHILDHOOD Disease phenotype 0
Category members Alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma Disease phenotype 0
Category members ALZHEIMER DISEASE ALZHEIMER DISEASE Disease phenotype 0
Category members AMME COMPLEX AMME COMPLEX Disease phenotype 0
Category members Amyotrophic lateral sclerosis-parkinsonism-dementia complex Amyotrophic lateral sclerosis-parkinsonism-dementia complex Disease phenotype 0
Category members AMYOTROPHIC LATERAL SCLEROSIS 1 AMYOTROPHIC LATERAL SCLEROSIS 1 Disease phenotype 0
Category members ANEMIA SIDEROBLASTIC PYRIDOXINE-REFRACTORY AUTOSOMAL RECESSIVE ANEMIA SIDEROBLASTIC PYRIDOXINE-REFRACTORY AUTOSOMAL RECESSIVE Disease phenotype 0
Category members Antenatal Bartter syndrome Antenatal Bartter syndrome Disease phenotype 0
Category members ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS Disease phenotype 0
Category members anterior segment mesenchymal dysgenesis (ASMD) anterior segment mesenchymal dysgenesis (ASMD) Disease phenotype 0
Category members APLASTIC ANEMIA APLASTIC ANEMIA Disease phenotype 0
Category members APOLIPOPROTEIN A-I DEFICIENCY APOLIPOPROTEIN A-I DEFICIENCY Disease phenotype 0
Category members APOLIPOPROTEIN C-II DEFICIENCY APOLIPOPROTEIN C-II DEFICIENCY Disease phenotype 0
Category members AROMATASE EXCESS SYNDROME AROMATASE EXCESS SYNDROME Disease phenotype 0
Category members ARTHROGRYPOSIS DISTAL TYPE 2B ARTHROGRYPOSIS DISTAL TYPE 2B Disease phenotype 0
Category members Athyreosis Athyreosis Disease phenotype 0
Category members Atrial septal defect ostium secundum type Atrial septal defect ostium secundum type Disease phenotype 0
Category members Atrial standstill Atrial standstill Disease phenotype 0
Category members Atypical glycine encephalopathy Atypical glycine encephalopathy Disease phenotype 0
Category members Atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic-uremic syndrome with anti-factor H antibodies Disease phenotype 0
Category members Atypical juvenile parkinsonism Atypical juvenile parkinsonism Disease phenotype 0
Category members ATYPICAL MYCOBACTERIOSIS FAMILIAL ATYPICAL MYCOBACTERIOSIS FAMILIAL Disease phenotype 0
Category members Atypical Rett syndrome Atypical Rett syndrome Disease phenotype 0
Category members AURICULOCONDYLAR SYNDROME AURICULOCONDYLAR SYNDROME Disease phenotype 0
Category members AUTISM AUTISM Disease phenotype 0
Category members AUTOIMMUNE DISEASE AUTOIMMUNE DISEASE Disease phenotype 0
Category members AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Disease phenotype 0
Category members Autosomal agammaglobulinemia Autosomal agammaglobulinemia Disease phenotype 0
Category members Autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy Disease phenotype 0
Category members Autosomal dominant cervical dystonia Autosomal dominant cervical dystonia Disease phenotype 0
Category members Autosomal dominant cutis laxa Autosomal dominant cutis laxa Disease phenotype 0
Category members Autosomal dominant epilepsy with auditory features Autosomal dominant epilepsy with auditory features Disease phenotype 0
Category members Autosomal dominant hypocalcemia Autosomal dominant hypocalcemia Disease phenotype 0
Category members Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant hypohidrotic ectodermal dysplasia Disease phenotype 0
Category members Autosomal dominant macrothrombocytopenia Autosomal dominant macrothrombocytopenia Disease phenotype 0
Category members Autosomal dominant methemoglobinemia Autosomal dominant methemoglobinemia Disease phenotype 0
Category members Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal dominant nonsyndromic sensorineural deafness type DFNA Disease phenotype 0
Category members Autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive external ophthalmoplegia Disease phenotype 0
Category members Autosomal dominant secondary polycythemia Autosomal dominant secondary polycythemia Disease phenotype 0
Category members Autosomal dominant severe congenital neutropenia Autosomal dominant severe congenital neutropenia Disease phenotype 0
Category members Autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy Disease phenotype 0
Category members Autosomal recessive epidermolysis bullosa simplex Autosomal recessive epidermolysis bullosa simplex Disease phenotype 0
Category members Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive hypohidrotic ectodermal dysplasia Disease phenotype 0
Category members Autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets Disease phenotype 0
Category members Autosomal recessive lymphoproliferative disease Autosomal recessive lymphoproliferative disease Disease phenotype 0
Category members Autosomal recessive malignant osteopetrosis Autosomal recessive malignant osteopetrosis Disease phenotype 0
Category members Autosomal Recessive Mental Retardation Autosomal Recessive Mental Retardation Disease phenotype 0
Category members Autosomal recessive non-syndromic intellectual disability Autosomal recessive non-syndromic intellectual disability Disease phenotype 0
Category members Autosomal recessive primary microcephaly Autosomal recessive primary microcephaly Disease phenotype 0
Category members Autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis Disease phenotype 0
Category members Autosomal recessive Stickler syndrome Autosomal recessive Stickler syndrome Disease phenotype 0
Category members Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome Disease phenotype 0
Category members AXENFELD ANOMALY AXENFELD ANOMALY Disease phenotype 0
Category members BARDET-BIEDL SYNDROME BARDET-BIEDL SYNDROME Disease phenotype 0
Category members BARE LYMPHOCYTE SYNDROME TYPE II BARE LYMPHOCYTE SYNDROME TYPE II Disease phenotype 0
Category members Bartter syndrome type 4B Bartter syndrome type 4B Disease phenotype 0
Category members BASAL CELL CARCINOMA SUSCEPTIBILITY TO 1 BASAL CELL CARCINOMA SUSCEPTIBILITY TO 1 Disease phenotype 0
Category members BECKWITH-WIEDEMANN SYNDROME BECKWITH-WIEDEMANN SYNDROME Disease phenotype 0
Category members Behcet disease Behcet disease Disease phenotype 0
Category members Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Disease phenotype 0
Category members Benign familial neonatal seizures Benign familial neonatal seizures Disease phenotype 0
Category members Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip congenital lipodystrophy Disease phenotype 0
Category members Bernard-Soulier syndrome Bernard-Soulier syndrome Disease phenotype 0
Category members BETHLEM MYOPATHY BETHLEM MYOPATHY Disease phenotype 0
Category members Bilateral renal agenesis Bilateral renal agenesis Disease phenotype 0
Category members Bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis Disease phenotype 0
Category members BLADDER CANCER BLADDER CANCER Disease phenotype 0
Category members BLOOD GROUP P1PK SYSTEM BLOOD GROUP P1PK SYSTEM Disease phenotype 0
Category members BOR syndrome BOR syndrome Disease phenotype 0
Category members Brachydactyly type A2 Brachydactyly type A2 Disease phenotype 0
Category members Branchio-otic syndrome Branchio-otic syndrome Disease phenotype 0
Category members Brittle cornea syndrome Brittle cornea syndrome Disease phenotype 0
Category members BRUGADA SYNDROME BRUGADA SYNDROME Disease phenotype 0
Category members BUDD-CHIARI SYNDROME BUDD-CHIARI SYNDROME Disease phenotype 0
Category members C1q DEFICIENCY C1q DEFICIENCY Disease phenotype 0
Category members Cap myopathy Cap myopathy Disease phenotype 0
Category members CARDIOENCEPHALOMYOPATHY FATAL INFANTILE DUE TO CYTOCHROME c OXIDASE CARDIOENCEPHALOMYOPATHY FATAL INFANTILE DUE TO CYTOCHROME c OXIDASE Disease phenotype 0
Category members CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 1 CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 1 Disease phenotype 0
Category members Carney-Stratakis syndrome Carney-Stratakis syndrome Disease phenotype 0
Category members CARPENTER SYNDROME CARPENTER SYNDROME Disease phenotype 0
Category members Cataract-microcornea syndrome Cataract-microcornea syndrome Disease phenotype 0
Category members Cataract - intellectual disability - hypogonadism Cataract - intellectual disability - hypogonadism Disease phenotype 0
Category members Cataract with Y-shaped suture opacities Cataract with Y-shaped suture opacities Disease phenotype 0
Category members Caudal regression sequence Caudal regression sequence Disease phenotype 0
Category members Central areolar choroidal dystrophy Central areolar choroidal dystrophy Disease phenotype 0
Category members Cerebellar ataxia - hypogonadism Cerebellar ataxia - hypogonadism Disease phenotype 0
Category members CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME Disease phenotype 0
Category members Cerebral sinovenous thrombosis Cerebral sinovenous thrombosis Disease phenotype 0
Category members Cerulean cataract Cerulean cataract Disease phenotype 0
Category members Cervical spina bifida aperta Cervical spina bifida aperta Disease phenotype 0
Category members Cervical spina bifida cystica Cervical spina bifida cystica Disease phenotype 0
Category members Cervicothoracic spina bifida aperta Cervicothoracic spina bifida aperta Disease phenotype 0
Category members Cervicothoracic spina bifida cystica Cervicothoracic spina bifida cystica Disease phenotype 0
Category members Channelopathy-associated congenital insensitivity to pain Channelopathy-associated congenital insensitivity to pain Disease phenotype 0
Category members CHARGE SYNDROME CHARGE SYNDROME Disease phenotype 0
Category members Childhood-onset nemaline myopathy Childhood-onset nemaline myopathy Disease phenotype 0
Category members Childhood absence epilepsy Childhood absence epilepsy Disease phenotype 0
Category members CHROMOSOME 10q23 DELETION SYNDROME CHROMOSOME 10q23 DELETION SYNDROME Disease phenotype 0
Category members Chronic granulomatous disease Chronic granulomatous disease Disease phenotype 0
Category members Chronic mucocutaneous candidosis Chronic mucocutaneous candidosis Disease phenotype 0
Category members Chronic myeloid leukemia Chronic myeloid leukemia Disease phenotype 0
Category members Chronic myelomonocytic leukemia Chronic myelomonocytic leukemia Disease phenotype 0
Category members CILIARY DYSKINESIA PRIMARY 1 CILIARY DYSKINESIA PRIMARY 1 Disease phenotype 0
Category members CIRRHOSIS FAMILIAL CIRRHOSIS FAMILIAL Disease phenotype 0
Category members Classic multiminicore myopathy Classic multiminicore myopathy Disease phenotype 0
Category members Cleft Lip +/- Cleft Palate Cleft Lip +/- Cleft Palate Disease phenotype 0
Category members COACH syndrome COACH syndrome Disease phenotype 0
Category members Coenzyme Q10 deficiency Coenzyme Q10 deficiency Disease phenotype 0
Category members Cold-induced sweating syndrome Cold-induced sweating syndrome Disease phenotype 0
Category members Colobomatous microphthalmia Colobomatous microphthalmia Disease phenotype 0
Category members COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS Disease phenotype 0
Category members Combined deficiency of factor V and factor VIII Combined deficiency of factor V and factor VIII Disease phenotype 0
Category members Combined pituitary hormone deficiencies genetic forms Combined pituitary hormone deficiencies genetic forms Disease phenotype 0
Category members Commissural facial cleft Commissural facial cleft Disease phenotype 0
Category members Common variable immunodeficiency Common variable immunodeficiency Disease phenotype 0
Category members Complete atrioventricular canal - Fallot tetralogy Complete atrioventricular canal - Fallot tetralogy Disease phenotype 0
Category members Complete atrioventricular canal - left heart obstruction Complete atrioventricular canal - left heart obstruction Disease phenotype 0
Category members Complete atrioventricular canal - ventricle hypoplasia Complete atrioventricular canal - ventricle hypoplasia Disease phenotype 0
Category members Complete hydatidiform mole Complete hydatidiform mole Disease phenotype 0
Category members Cone rod dystrophy Cone rod dystrophy Disease phenotype 0
Category members Congenitally uncorrected transposition of the great arteries Congenitally uncorrected transposition of the great arteries Disease phenotype 0
Category members Congenital cataract microcornea with corneal opacity Congenital cataract microcornea with corneal opacity Disease phenotype 0
Category members Congenital Disorders of Glycosylation Congenital Disorders of Glycosylation Disease phenotype 0
Category members Congenital dyserythropoietic anemia type I Congenital dyserythropoietic anemia type I Disease phenotype 0
Category members Congenital erythropoietic porphyria Congenital erythropoietic porphyria Disease phenotype 0
Category members Congenital factor XIII deficiency Congenital factor XIII deficiency Disease phenotype 0
Category members Congenital fibrosis of extraocular muscles Congenital fibrosis of extraocular muscles Disease phenotype 0
Category members Congenital glaucoma Congenital glaucoma Disease phenotype 0
Category members Congenital heart disease Congenital heart disease Disease phenotype 0
Category members Congenital mesoblastic nephroma Congenital mesoblastic nephroma Disease phenotype 0
Category members Congenital Muscular Dystrophy Congenital Muscular Dystrophy Disease phenotype 0
Category members Congenital muscular dystrophy Ullrich type Congenital muscular dystrophy Ullrich type Disease phenotype 0
Category members Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy without intellectual disability Disease phenotype 0
Category members Congenital myasthenic syndromes with glycosylation defect Congenital myasthenic syndromes with glycosylation defect Disease phenotype 0
Category members Congenital pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis Disease phenotype 0
Category members Congenital stationary night blindness Congenital stationary night blindness Disease phenotype 0
Category members Conotruncal heart malformations Conotruncal heart malformations Disease phenotype 0
Category members Coppock-like cataract Coppock-like cataract Disease phenotype 0
Category members CORTISONE REDUCTASE DEFICIENCY 1 CORTISONE REDUCTASE DEFICIENCY 1 Disease phenotype 0
Category members Craniometaphyseal dysplasia Craniometaphyseal dysplasia Disease phenotype 0
Category members Craniosynostosis and dental anomalies Craniosynostosis and dental anomalies Disease phenotype 0
Category members Cree leukoencephalopathy Cree leukoencephalopathy Disease phenotype 0
Category members Cutis gyrata - acanthosis nigricans - craniosynostosis Cutis gyrata - acanthosis nigricans - craniosynostosis Disease phenotype 0
Category members D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Disease phenotype 0
Category members Deafness-infertility syndrome Deafness-infertility syndrome Disease phenotype 0
Category members DEAFNESS SENSORINEURAL AND MALE INFERTILITY DEAFNESS SENSORINEURAL AND MALE INFERTILITY Disease phenotype 0
Category members Dedifferentiated liposarcoma Dedifferentiated liposarcoma Disease phenotype 0
Category members Dejerine-Sottas syndrome Dejerine-Sottas syndrome Disease phenotype 0
Category members Delta-beta thalassemia Delta-beta thalassemia Disease phenotype 0
Category members DERMATOFIBROSARCOMA PROTUBERANS DERMATOFIBROSARCOMA PROTUBERANS Disease phenotype 0
Category members Desbuquois syndrome Desbuquois syndrome Disease phenotype 0
Category members Desmoplastic small round cell tumor Desmoplastic small round cell tumor Disease phenotype 0
Category members DIABETES MELLITUS INSULIN-DEPENDENT DIABETES MELLITUS INSULIN-DEPENDENT Disease phenotype 0
Category members DIABETES MELLITUS PERMANENT NEONATAL DIABETES MELLITUS PERMANENT NEONATAL Disease phenotype 0
Category members Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis Disease phenotype 0
Category members Diffuse panbronchiolitis Diffuse panbronchiolitis Disease phenotype 0
Category members Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Disease phenotype 0
Category members Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 Disease phenotype 0
Category members Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 5 Disease phenotype 0
Category members Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease phenotype 0
Category members Double outlet right ventricle Double outlet right ventricle Disease phenotype 0
Category members DOWLING-DEGOS DISEASE DOWLING-DEGOS DISEASE Disease phenotype 0
Category members DRAVET SYNDROME DRAVET SYNDROME Disease phenotype 0
Category members Dysequilibrium syndrome Dysequilibrium syndrome Disease phenotype 0
Category members Dyskeratosis congenita Dyskeratosis congenita Disease phenotype 0
Category members DYSLEXIA SUSCEPTIBILITY TO 2 DYSLEXIA SUSCEPTIBILITY TO 2 Disease phenotype 0
Category members Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy Disease phenotype 0
Category members Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome Disease phenotype 0
Category members EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE Disease phenotype 0
Category members Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome type 1 Disease phenotype 0
Category members Ehlers-Danlos syndrome type 2 Ehlers-Danlos syndrome type 2 Disease phenotype 0
Category members EHLERS-DANLOS SYNDROME TYPE I EHLERS-DANLOS SYNDROME TYPE I Disease phenotype 0
Category members EHLERS-DANLOS SYNDROME TYPE II EHLERS-DANLOS SYNDROME TYPE II Disease phenotype 0
Category members EHLERS-DANLOS SYNDROME TYPE III EHLERS-DANLOS SYNDROME TYPE III Disease phenotype 0
Category members EHLERS-DANLOS SYNDROME TYPE VII AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME TYPE VII AUTOSOMAL DOMINANT Disease phenotype 0
Category members EHMT1-like Intellectual Disability EHMT1-like Intellectual Disability Disease phenotype 0
Category members ELLIPTOCYTOSIS 2 ELLIPTOCYTOSIS 2 Disease phenotype 0
Category members ELLIS-VAN CREVELD SYNDROME ELLIS-VAN CREVELD SYNDROME Disease phenotype 0
Category members Ellis-van Creveld syndrome (EVC) Ellis-van Creveld syndrome (EVC) Disease phenotype 0
Category members Ellis Van Creveld syndrome Ellis Van Creveld syndrome Disease phenotype 0
Category members Enchondromatosis Enchondromatosis Disease phenotype 0
Category members EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA Disease phenotype 0
Category members EPIDERMOLYSIS BULLOSA JUNCTIONAL HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONAL HERLITZ TYPE Disease phenotype 0
Category members EPIDERMOLYSIS BULLOSA JUNCTIONAL NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONAL NON-HERLITZ TYPE Disease phenotype 0
Category members EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Disease phenotype 0
Category members epileptic encephalopathies epileptic encephalopathies Disease phenotype 0
Category members Epileptic encephalopathy Epileptic encephalopathy Disease phenotype 0
Category members EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 Disease phenotype 0
Category members Erythrokeratodermia variabilis Erythrokeratodermia variabilis Disease phenotype 0
Category members ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA Disease phenotype 0
Category members Erythropoietic protoporphyria Erythropoietic protoporphyria Disease phenotype 0
Category members Essential thrombocythemia Essential thrombocythemia Disease phenotype 0
Category members Extraskeletal Ewing sarcoma Extraskeletal Ewing sarcoma Disease phenotype 0
Category members Extraskeletal myxoid chondrosarcoma Extraskeletal myxoid chondrosarcoma Disease phenotype 0
Category members Familial atrial fibrillation Familial atrial fibrillation Disease phenotype 0
Category members Familial capillary hemangioma Familial capillary hemangioma Disease phenotype 0
Category members Familial cerebral saccular aneurysm Familial cerebral saccular aneurysm Disease phenotype 0
Category members Familial drusen Familial drusen Disease phenotype 0
Category members Familial exudative vitreoretinopathy Familial exudative vitreoretinopathy Disease phenotype 0
Category members Familial gastric cancer Familial gastric cancer Disease phenotype 0
Category members Familial hypobetalipoproteinemia Familial hypobetalipoproteinemia Disease phenotype 0
Category members Familial hypospadias Familial hypospadias Disease phenotype 0
Category members Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Disease phenotype 0
Category members Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Disease phenotype 0
Category members Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Disease phenotype 0
Category members Familial isolated congenital asplenia Familial isolated congenital asplenia Disease phenotype 0
Category members Familial isolated hyperparathyroidism Familial isolated hyperparathyroidism Disease phenotype 0
Category members Familial isolated hypoparathyroidism due to impaired PTH secretion Familial isolated hypoparathyroidism due to impaired PTH secretion Disease phenotype 0
Category members Familial isolated restrictive cardiomyopathy Familial isolated restrictive cardiomyopathy Disease phenotype 0
Category members Familial medullary thyroid carcinoma Familial medullary thyroid carcinoma Disease phenotype 0
Category members Familial melanoma Familial melanoma Disease phenotype 0
Category members Familial multiple meningioma Familial multiple meningioma Disease phenotype 0
Category members Familial ocular anterior segment mesenchymal dysgenesis Familial ocular anterior segment mesenchymal dysgenesis Disease phenotype 0
Category members Familial or sporadic hemiplegic migraine Familial or sporadic hemiplegic migraine Disease phenotype 0
Category members Familial parathyroid adenoma Familial parathyroid adenoma Disease phenotype 0
Category members Familial porencephaly Familial porencephaly Disease phenotype 0
Category members Familial primary hypomagnesemia with normocalcuria and normocalcemia Familial primary hypomagnesemia with normocalcuria and normocalcemia Disease phenotype 0
Category members Familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis Disease phenotype 0
Category members Familial progressive cardiac conduction defect Familial progressive cardiac conduction defect Disease phenotype 0
Category members Familial renal cell carcinoma Familial renal cell carcinoma Disease phenotype 0
Category members Familial short QT syndrome Familial short QT syndrome Disease phenotype 0
Category members Familial sick sinus syndrome Familial sick sinus syndrome Disease phenotype 0
Category members Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Disease phenotype 0
Category members Familial thrombocytosis Familial thrombocytosis Disease phenotype 0
Category members Familial thyroid dyshormonogenesis Familial thyroid dyshormonogenesis Disease phenotype 0
Category members Fatal infantile cytochrome C oxidase deficiency Fatal infantile cytochrome C oxidase deficiency Disease phenotype 0
Category members FETAL AKINESIA DEFORMATION SEQUENCE FETAL AKINESIA DEFORMATION SEQUENCE Disease phenotype 0
Category members Fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia Disease phenotype 0
Category members Fibrochondrogenesis Fibrochondrogenesis Disease phenotype 0
Category members Fibrosarcoma Fibrosarcoma Disease phenotype 0
Category members Follicular lymphoma Follicular lymphoma Disease phenotype 0
Category members FRONTOTEMPORAL DEMENTIA FRONTOTEMPORAL DEMENTIA Disease phenotype 0
Category members FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS Disease phenotype 0
Category members Frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease Disease phenotype 0
Category members FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS GRN-RELATED FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS GRN-RELATED Disease phenotype 0
Category members FUNDUS ALBIPUNCTATUS FUNDUS ALBIPUNCTATUS Disease phenotype 0
Category members Gastric cancer Gastric cancer Disease phenotype 0
Category members Generalized arterial calcification of infancy Generalized arterial calcification of infancy Disease phenotype 0
Category members Generalized epilepsy with febrile seizures-plus context Generalized epilepsy with febrile seizures-plus context Disease phenotype 0
Category members GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 1 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 1 Disease phenotype 0
Category members Generalized junctional epidermolysis bullosa non-Herlitz type Generalized junctional epidermolysis bullosa non-Herlitz type Disease phenotype 0
Category members Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Disease phenotype 0
Category members Geroderma osteodysplastica Geroderma osteodysplastica Disease phenotype 0
Category members GILLES DE LA TOURETTE SYNDROME GILLES DE LA TOURETTE SYNDROME Disease phenotype 0
Category members GITELMAN SYNDROME GITELMAN SYNDROME Disease phenotype 0
Category members GLAUCOMA 1 OPEN ANGLE A GLAUCOMA 1 OPEN ANGLE A Disease phenotype 0
Category members GLAUCOMA 3 PRIMARY CONGENITAL A GLAUCOMA 3 PRIMARY CONGENITAL A Disease phenotype 0
Category members GLAUCOMA PRIMARY OPEN ANGLE GLAUCOMA PRIMARY OPEN ANGLE Disease phenotype 0
Category members GLIOMA SUSCEPTIBILITY 1 GLIOMA SUSCEPTIBILITY 1 Disease phenotype 0
Category members GLYCINE ENCEPHALOPATHY GLYCINE ENCEPHALOPATHY Disease phenotype 0
Category members Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Disease phenotype 0
Category members Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Disease phenotype 0
Category members Granulomatosis with polyangiitis Granulomatosis with polyangiitis Disease phenotype 0
Category members GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE Disease phenotype 0
Category members Griscelli disease type 3 Griscelli disease type 3 Disease phenotype 0
Category members GRISCELLI SYNDROME TYPE 3 GRISCELLI SYNDROME TYPE 3 Disease phenotype 0
Category members Haddad syndrome Haddad syndrome Disease phenotype 0
Category members HEINZ BODY ANEMIAS HEINZ BODY ANEMIAS Disease phenotype 0
Category members HEMANGIOMA CAPILLARY INFANTILE HEMANGIOMA CAPILLARY INFANTILE Disease phenotype 0
Category members Hemochromatosis type 2 Hemochromatosis type 2 Disease phenotype 0
Category members Hemoglobin Lepore - beta-thalassemia Hemoglobin Lepore - beta-thalassemia Disease phenotype 0
Category members HEMORRHAGE INTRACEREBRAL SUSCEPTIBILITY TO HEMORRHAGE INTRACEREBRAL SUSCEPTIBILITY TO Disease phenotype 0
Category members HEPATITIS B VIRUS SUSCEPTIBILITY TO HEPATITIS B VIRUS SUSCEPTIBILITY TO Disease phenotype 0
Category members Hereditary aplastic anemia Hereditary aplastic anemia Disease phenotype 0
Category members Hereditary breast cancer Hereditary breast cancer Disease phenotype 0
Category members Hereditary cerebral cavernous malformation Hereditary cerebral cavernous malformation Disease phenotype 0
Category members Hereditary chronic pancreatitis Hereditary chronic pancreatitis Disease phenotype 0
Category members Hereditary combined deficiency of vitamin K-dependent clotting factors Hereditary combined deficiency of vitamin K-dependent clotting factors Disease phenotype 0
Category members Hereditary hyperekplexia Hereditary hyperekplexia Disease phenotype 0
Category members Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary persistence of fetal hemoglobin - beta-thalassemia Disease phenotype 0
Category members Hereditary persistence of fetal hemoglobin - sickle cell disease Hereditary persistence of fetal hemoglobin - sickle cell disease Disease phenotype 0
Category members Hereditary pheochromocytoma-paraganglioma Hereditary pheochromocytoma-paraganglioma Disease phenotype 0
Category members Hereditary renal hypouricemia Hereditary renal hypouricemia Disease phenotype 0
Category members Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1 Disease phenotype 0
Category members Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 Disease phenotype 0
Category members Hereditary site-specific ovarian cancer syndrome Hereditary site-specific ovarian cancer syndrome Disease phenotype 0
Category members Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia Disease phenotype 0
Category members Heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension Disease phenotype 0
Category members HERMANSKY-PUDLAK SYNDROME 1 HERMANSKY-PUDLAK SYNDROME 1 Disease phenotype 0
Category members Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis Disease phenotype 0
Category members Herpetic encephalitis Herpetic encephalitis Disease phenotype 0
Category members Heterotaxy Syndrome Heterotaxy Syndrome Disease phenotype 0
Category members High bone mass osteogenesis imperfecta High bone mass osteogenesis imperfecta Disease phenotype 0
Category members Hirschsprung disease Hirschsprung disease Disease phenotype 0
Category members HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 1 HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 1 Disease phenotype 0
Category members Holoprosencephaly Holoprosencephaly Disease phenotype 0
Category members Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia Disease phenotype 0
Category members HOYERAAL-HREIDARSSON SYNDROME HOYERAAL-HREIDARSSON SYNDROME Disease phenotype 0
Category members HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 SUSCEPTIBILITY TO Disease phenotype 0
Category members HUTCHINSON-GILFORD PROGERIA SYNDROME HUTCHINSON-GILFORD PROGERIA SYNDROME Disease phenotype 0
Category members Hyperandrogenism due to cortisone reductase deficiency Hyperandrogenism due to cortisone reductase deficiency Disease phenotype 0
Category members HYPERBILIRUBINEMIA ROTOR TYPE HYPERBILIRUBINEMIA ROTOR TYPE Disease phenotype 0
Category members HYPERCHOLESTEROLEMIA FAMILIAL HYPERCHOLESTEROLEMIA FAMILIAL Disease phenotype 0
Category members HYPEREOSINOPHILIC SYNDROME IDIOPATHIC HYPEREOSINOPHILIC SYNDROME IDIOPATHIC Disease phenotype 0
Category members HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 3 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 3 Disease phenotype 0
Category members Hyperlipoproteinemia type 4 Hyperlipoproteinemia type 4 Disease phenotype 0
Category members HYPEROSTOSIS CORTICALIS GENERALISATA HYPEROSTOSIS CORTICALIS GENERALISATA Disease phenotype 0
Category members HYPERPARATHYROIDISM 1 HYPERPARATHYROIDISM 1 Disease phenotype 0
Category members Hyperphosphatasia-intellectual disability syndrome Hyperphosphatasia-intellectual disability syndrome Disease phenotype 0
Category members HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Disease phenotype 0
Category members HYPOALPHALIPOPROTEINEMIA PRIMARY HYPOALPHALIPOPROTEINEMIA PRIMARY Disease phenotype 0
Category members HYPOGONADOTROPIC HYPOGONADISM HYPOGONADOTROPIC HYPOGONADISM Disease phenotype 0
Category members Hypomaturation amelogenesis imperfecta Hypomaturation amelogenesis imperfecta Disease phenotype 0
Category members HYPOPARATHYROIDISM FAMILIAL ISOLATED HYPOPARATHYROIDISM FAMILIAL ISOLATED Disease phenotype 0
Category members Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta Disease phenotype 0
Category members Hypoplastic tibiae - postaxial polydactyly Hypoplastic tibiae - postaxial polydactyly Disease phenotype 0
Category members Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to deficient transcription factors involved in pituitary development or function Disease phenotype 0
Category members Hypotrichosis simplex Hypotrichosis simplex Disease phenotype 0
Category members Hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp Disease phenotype 0
Category members Ichthyosis-short stature-brachydactyly-microspherophakia syndrome Ichthyosis-short stature-brachydactyly-microspherophakia syndrome Disease phenotype 0
Category members Idiopathic aplastic anemia Idiopathic aplastic anemia Disease phenotype 0
Category members Idiopathic hypereosinophilic syndrome Idiopathic hypereosinophilic syndrome Disease phenotype 0
Category members Idiopathic hypogonadotropic hypogonadism (IHH) Idiopathic hypogonadotropic hypogonadism (IHH) Disease phenotype 0
Category members Idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis Disease phenotype 0
Category members Idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension Disease phenotype 0
Category members Idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis Disease phenotype 0
Category members Idiopathic ventricular fibrillation not Brugada type Idiopathic ventricular fibrillation not Brugada type Disease phenotype 0
Category members IgE RESPONSIVENESS ATOPIC IgE RESPONSIVENESS ATOPIC Disease phenotype 0
Category members IMINOGLYCINURIA IMINOGLYCINURIA Disease phenotype 0
Category members Immunodeficiency by defective expression of HLA class 2 Immunodeficiency by defective expression of HLA class 2 Disease phenotype 0
Category members Immunodeficiency due to an early component of complement deficiency Immunodeficiency due to an early component of complement deficiency Disease phenotype 0
Category members Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis Disease phenotype 0
Category members Infantile autosomal recessive medullary cystic kidney disease Infantile autosomal recessive medullary cystic kidney disease Disease phenotype 0
Category members Infantile Bartter syndrome with deafness Infantile Bartter syndrome with deafness Disease phenotype 0
Category members Infantile glycine encephalopathy Infantile glycine encephalopathy Disease phenotype 0
Category members Infantile myofibromatosis 1 Infantile myofibromatosis 1 Disease phenotype 0
Category members Infantile Refsum disease Infantile Refsum disease Disease phenotype 0
Category members infantile Refsum disease (IRD) infantile Refsum disease (IRD) Disease phenotype 0
Category members Infant acute respiratory distress syndrome Infant acute respiratory distress syndrome Disease phenotype 0
Category members Intermediate nemaline myopathy Intermediate nemaline myopathy Disease phenotype 0
Category members Intermediate osteopetrosis Intermediate osteopetrosis Disease phenotype 0
Category members Intermittent hydrarthrosis Intermittent hydrarthrosis Disease phenotype 0
Category members INTERVERTEBRAL DISC DISEASE INTERVERTEBRAL DISC DISEASE Disease phenotype 0
Category members Intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy Disease phenotype 0
Category members Intravascular large B-cell lymphoma Intravascular large B-cell lymphoma Disease phenotype 0
Category members INVASIVE PNEUMOCOCCAL DISEASE RECURRENT ISOLATED 1 INVASIVE PNEUMOCOCCAL DISEASE RECURRENT ISOLATED 1 Disease phenotype 0
Category members Isolated anencephaly/exencephaly Isolated anencephaly/exencephaly Disease phenotype 0
Category members Isolated ATP synthase deficiency Isolated ATP synthase deficiency Disease phenotype 0
Category members Isolated brachycephaly Isolated brachycephaly Disease phenotype 0
Category members Isolated cloverleaf skull syndrome Isolated cloverleaf skull syndrome Disease phenotype 0
Category members Isolated CoQ-cytochrome C reductase deficiency Isolated CoQ-cytochrome C reductase deficiency Disease phenotype 0
Category members Isolated cytochrome C oxidase deficiency Isolated cytochrome C oxidase deficiency Disease phenotype 0
Category members Isolated Dandy-Walker malformation without hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus Disease phenotype 0
Category members Isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation with hydrocephalus Disease phenotype 0
Category members Isolated delta-storage pool disease Isolated delta-storage pool disease Disease phenotype 0
Category members Isolated Klippel-Feil syndrome Isolated Klippel-Feil syndrome Disease phenotype 0
Category members Isolated plagiocephaly Isolated plagiocephaly Disease phenotype 0
Category members Isolated scaphocephaly Isolated scaphocephaly Disease phenotype 0
Category members Isolated succinate-CoQ reductase deficiency Isolated succinate-CoQ reductase deficiency Disease phenotype 0
Category members Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome Disease phenotype 0
Category members Jeune syndrome Jeune syndrome Disease phenotype 0
Category members Joubert Syndrome and Related Disorders Joubert Syndrome and Related Disorders Disease phenotype 0
Category members Joubert syndrome with hepatic defect Joubert syndrome with hepatic defect Disease phenotype 0
Category members Joubert syndrome with orofaciodigital defect Joubert syndrome with orofaciodigital defect Disease phenotype 0
Category members Joubert syndrome with renal defect Joubert syndrome with renal defect Disease phenotype 0
Category members Junctional epidermolysis bullosa - pyloric atresia Junctional epidermolysis bullosa - pyloric atresia Disease phenotype 0
Category members Junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa Herlitz type Disease phenotype 0
Category members Juvenile autosomal recessive medullary cystic kidney disease Juvenile autosomal recessive medullary cystic kidney disease Disease phenotype 0
Category members Juvenile glaucoma Juvenile glaucoma Disease phenotype 0
Category members Juvenile myoclonic epilepsy Juvenile myoclonic epilepsy Disease phenotype 0
Category members Juvenile polyposis of infancy Juvenile polyposis of infancy Disease phenotype 0
Category members Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-negative polyarthritis Disease phenotype 0
Category members Kallmann Syndrome Kallmann Syndrome Disease phenotype 0
Category members Keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans Disease phenotype 0
Category members KERATOSIS FOLLICULARIS SPINULOSA DECALVANS X-LINKED KERATOSIS FOLLICULARIS SPINULOSA DECALVANS X-LINKED Disease phenotype 0
Category members KERATOSIS SEBORRHEIC KERATOSIS SEBORRHEIC Disease phenotype 0
Category members lacrimo-auriculo-dento-digital syndrome (LADDS) lacrimo-auriculo-dento-digital syndrome (LADDS) Disease phenotype 0
Category members LACRIMOAURICULODENTODIGITAL SYNDROME LACRIMOAURICULODENTODIGITAL SYNDROME Disease phenotype 0
Category members Lafora disease Lafora disease Disease phenotype 0
Category members Lamellar ichthyosis Lamellar ichthyosis Disease phenotype 0
Category members Langer-Giedion syndrome Langer-Giedion syndrome Disease phenotype 0
Category members Late infantile CACH syndrome Late infantile CACH syndrome Disease phenotype 0
Category members Left ventricular noncompaction Left ventricular noncompaction Disease phenotype 0
Category members Leigh syndrome Leigh syndrome Disease phenotype 0
Category members Leigh syndrome (LS) Leigh syndrome (LS) Disease phenotype 0
Category members Leigh syndrome with nephrotic syndrome Leigh syndrome with nephrotic syndrome Disease phenotype 0
Category members LEIOMYOMA UTERINE LEIOMYOMA UTERINE Disease phenotype 0
Category members Lennox-Gastaut syndrome Lennox-Gastaut syndrome Disease phenotype 0
Category members lethal congenital contracture syndrome type 3 lethal congenital contracture syndrome type 3 Disease phenotype 0
Category members Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Disease phenotype 0
Category members Lethal restrictive dermopathy Lethal restrictive dermopathy Disease phenotype 0
Category members LEUKEMIA ACUTE MYELOID LEUKEMIA ACUTE MYELOID Disease phenotype 0
Category members LEUKEMIA CHRONIC MYELOID LEUKEMIA CHRONIC MYELOID Disease phenotype 0
Category members LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER Disease phenotype 0
Category members Limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis Disease phenotype 0
Category members Linear nevus sebaceus syndrome Linear nevus sebaceus syndrome Disease phenotype 0
Category members Lobar holoprosencephaly Lobar holoprosencephaly Disease phenotype 0
Category members Localized junctional epidermolysis bullosa non-Herlitz type Localized junctional epidermolysis bullosa non-Herlitz type Disease phenotype 0
Category members Loeys-Dietz syndrome Loeys-Dietz syndrome Disease phenotype 0
Category members Lumbosacral spina bifida aperta Lumbosacral spina bifida aperta Disease phenotype 0
Category members Lumbosacral spina bifida cystica Lumbosacral spina bifida cystica Disease phenotype 0
Category members Macular dystrophy vitelliform adult-onset Macular dystrophy vitelliform adult-onset Disease phenotype 0
Category members Mainzer-Saldino Syndrome Mainzer-Saldino Syndrome Disease phenotype 0
Category members MAJOR DEPRESSIVE DISORDER MAJOR DEPRESSIVE DISORDER Disease phenotype 0
Category members MALARIA SUSCEPTIBILITY TO MALARIA SUSCEPTIBILITY TO Disease phenotype 0
Category members Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligozoospermia due to single gene mutation Disease phenotype 0
Category members Malignant hyperthermia Malignant hyperthermia Disease phenotype 0
Category members MALT lymphoma MALT lymphoma Disease phenotype 0
Category members MANTLE CELL LYMPHOMA MANTLE CELL LYMPHOMA Disease phenotype 0
Category members Matthew-Wood syndrome Matthew-Wood syndrome Disease phenotype 0
Category members MATURITY-ONSET DIABETES OF THE YOUNG MATURITY-ONSET DIABETES OF THE YOUNG Disease phenotype 0
Category members Meckel syndrome Meckel syndrome Disease phenotype 0
Category members Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts Disease phenotype 0
Category members MELAS SYNDROME MELAS SYNDROME Disease phenotype 0
Category members Microform holoprosencephaly Microform holoprosencephaly Disease phenotype 0
Category members Microphthalmia - cataract Microphthalmia - cataract Disease phenotype 0
Category members MICROPHTHALMIA WITH LIMB ANOMALIES MICROPHTHALMIA WITH LIMB ANOMALIES Disease phenotype 0
Category members MIDAS syndromeMicrophthalmia with linear skin defects syndrome MIDAS syndromeMicrophthalmia with linear skin defects syndrome Disease phenotype 0
Category members Midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly Disease phenotype 0
Category members MITOCHONDRIAL COMPLEX IV DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY Disease phenotype 0
Category members mitochondrial complex IV deficiency (MT-C4D) mitochondrial complex IV deficiency (MT-C4D) Disease phenotype 0
Category members Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia Disease phenotype 0
Category members Mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency Disease phenotype 0
Category members MIYOSHI MYOPATHY MIYOSHI MYOPATHY Disease phenotype 0
Category members MONILETHRIX MONILETHRIX Disease phenotype 0
Category members Monomelic amyotrophy Monomelic amyotrophy Disease phenotype 0
Category members Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome Disease phenotype 0
Category members Moyamoya disease Moyamoya disease Disease phenotype 0
Category members Mucolipidosis type 3 Mucolipidosis type 3 Disease phenotype 0
Category members Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia due to collagen 9 anomaly Disease phenotype 0
Category members Multiple osteochondromas Multiple osteochondromas Disease phenotype 0
Category members MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE Disease phenotype 0
Category members MULTIPLE SULFATASE DEFICIENCY MULTIPLE SULFATASE DEFICIENCY Disease phenotype 0
Category members Multiple synostoses syndrome Multiple synostoses syndrome Disease phenotype 0
Category members Mutilating palmoplantar keratoderma with periorificial keratotic plaques Mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease phenotype 0
Category members Myasthenia gravis Myasthenia gravis Disease phenotype 0
Category members MYASTHENIA LIMB-GIRDLE FAMILIAL MYASTHENIA LIMB-GIRDLE FAMILIAL Disease phenotype 0
Category members MYASTHENIC SYNDROME CONGENITAL ASSOCIATED WITH ACETYLCHOLINE RECEPTOR MYASTHENIC SYNDROME CONGENITAL ASSOCIATED WITH ACETYLCHOLINE RECEPTOR Disease phenotype 0
Category members MYASTHENIC SYNDROME CONGENITAL FAST-CHANNEL MYASTHENIC SYNDROME CONGENITAL FAST-CHANNEL Disease phenotype 0
Category members MYASTHENIC SYNDROME CONGENITAL SLOW-CHANNEL MYASTHENIC SYNDROME CONGENITAL SLOW-CHANNEL Disease phenotype 0
Category members MYELODYSPLASTIC SYNDROME MYELODYSPLASTIC SYNDROME Disease phenotype 0
Category members Myelodysplastic syndromes Myelodysplastic syndromes Disease phenotype 0
Category members MYELOFIBROSIS MYELOFIBROSIS Disease phenotype 0
Category members Myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid metaplasia Disease phenotype 0
Category members MYELOMA MULTIPLE MYELOMA MULTIPLE Disease phenotype 0
Category members MYELOPROLIFERATIVE DISORDER CHRONIC WITH EOSINOPHILIA MYELOPROLIFERATIVE DISORDER CHRONIC WITH EOSINOPHILIA Disease phenotype 0
Category members Myoclonic dystonia Myoclonic dystonia Disease phenotype 0
Category members MYOCLONIC EPILEPSY OF LAFORA MYOCLONIC EPILEPSY OF LAFORA Disease phenotype 0
Category members MYOCLONUS-DYSTONIA SYNDROME MYOCLONUS-DYSTONIA SYNDROME Disease phenotype 0
Category members MYOPATHY CENTRONUCLEAR 1 MYOPATHY CENTRONUCLEAR 1 Disease phenotype 0
Category members MYOPATHY CONGENITAL WITH FIBER-TYPE DISPROPORTION MYOPATHY CONGENITAL WITH FIBER-TYPE DISPROPORTION Disease phenotype 0
Category members MYOTONIC DYSTROPHY 1 MYOTONIC DYSTROPHY 1 Disease phenotype 0
Category members Myxoid/round cell liposarcoma Myxoid/round cell liposarcoma Disease phenotype 0
Category members Narcolepsy-cataplexy Narcolepsy-cataplexy Disease phenotype 0
Category members Nasu-Hakola disease Nasu-Hakola disease Disease phenotype 0
Category members Neonatal acute respiratory distress with surfactant metabolism deficiency Neonatal acute respiratory distress with surfactant metabolism deficiency Disease phenotype 0
Category members NEONATAL ADRENOLEUKODYSTROPHY NEONATAL ADRENOLEUKODYSTROPHY Disease phenotype 0
Category members Neonatal glycine encephalopathy Neonatal glycine encephalopathy Disease phenotype 0
Category members Nephroblastoma Nephroblastoma Disease phenotype 0
Category members NEURAL TUBE DEFECTS NEURAL TUBE DEFECTS Disease phenotype 0
Category members Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome Disease phenotype 0
Category members NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VA NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VA Disease phenotype 0
Category members NEUROPATHY CONGENITAL HYPOMYELINATING OR AMYELINATING AUTOSOMAL NEUROPATHY CONGENITAL HYPOMYELINATING OR AMYELINATING AUTOSOMAL Disease phenotype 0
Category members Niemann-Pick disease type C adult neurologic onset Niemann-Pick disease type C adult neurologic onset Disease phenotype 0
Category members Niemann-Pick disease type C juvenile neurologic onset Niemann-Pick disease type C juvenile neurologic onset Disease phenotype 0
Category members Niemann-Pick disease type C late infantile neurologic onset Niemann-Pick disease type C late infantile neurologic onset Disease phenotype 0
Category members Niemann-Pick disease type C severe early infantile neurologic onset Niemann-Pick disease type C severe early infantile neurologic onset Disease phenotype 0
Category members Niemann-Pick disease type C severe perinatal form Niemann-Pick disease type C severe perinatal form Disease phenotype 0
Category members Nodulosis-arthropathy-osteolysis syndrome Nodulosis-arthropathy-osteolysis syndrome Disease phenotype 0
Category members Normosmic congenital hypogonadotropic hypogonadism Normosmic congenital hypogonadotropic hypogonadism Disease phenotype 0
Category members Nuclear cataract Nuclear cataract Disease phenotype 0
Category members Oculootodental syndrome Oculootodental syndrome Disease phenotype 0
Category members Oguchi disease Oguchi disease Disease phenotype 0
Category members Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis Disease phenotype 0
Category members Oligodontia Oligodontia Disease phenotype 0
Category members OMENN SYNDROME OMENN SYNDROME Disease phenotype 0
Category members Ondine syndrome Ondine syndrome Disease phenotype 0
Category members Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 1 Disease phenotype 0
Category members OSTEOGENESIS IMPERFECTA TYPE I OSTEOGENESIS IMPERFECTA TYPE I Disease phenotype 0
Category members OSTEOGENESIS IMPERFECTA TYPE II OSTEOGENESIS IMPERFECTA TYPE II Disease phenotype 0
Category members OSTEOGENESIS IMPERFECTA TYPE III OSTEOGENESIS IMPERFECTA TYPE III Disease phenotype 0
Category members OSTEOGENESIS IMPERFECTA TYPE IV OSTEOGENESIS IMPERFECTA TYPE IV Disease phenotype 0
Category members OTOFACIOCERVICAL SYNDROME OTOFACIOCERVICAL SYNDROME Disease phenotype 0
Category members OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Disease phenotype 0
Category members OVARIOLEUKODYSTROPHY OVARIOLEUKODYSTROPHY Disease phenotype 0
Category members Pachydermoperiostosis Pachydermoperiostosis Disease phenotype 0
Category members Pachyonychia congenita Pachyonychia congenita Disease phenotype 0
Category members Pachyonychia congenita 1 Pachyonychia congenita 1 Disease phenotype 0
Category members PALLISTER-HALL SYNDROME PALLISTER-HALL SYNDROME Disease phenotype 0
Category members PANCREATITIS HEREDITARY PANCREATITIS HEREDITARY Disease phenotype 0
Category members Panhypopituitarism Panhypopituitarism Disease phenotype 0
Category members PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA Disease phenotype 0
Category members Parkinsonian-pyramidal syndrome Parkinsonian-pyramidal syndrome Disease phenotype 0
Category members PARKINSON DISEASE LATE-ONSET PARKINSON DISEASE LATE-ONSET Disease phenotype 0
Category members Paroxysmal exertion-induced dyskinesia Paroxysmal exertion-induced dyskinesia Disease phenotype 0
Category members PAROXYSMAL EXTREME PAIN DISORDER PAROXYSMAL EXTREME PAIN DISORDER Disease phenotype 0
Category members Paroxysmal non-kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Disease phenotype 0
Category members Partial atrioventricular canal Partial atrioventricular canal Disease phenotype 0
Category members Partial pancreatic agenesis Partial pancreatic agenesis Disease phenotype 0
Category members Pediatric systemic lupus erythematosus Pediatric systemic lupus erythematosus Disease phenotype 0
Category members Peripheral primitive neuroectodermal tumor Peripheral primitive neuroectodermal tumor Disease phenotype 0
Category members Peripheral resistance to thyroid hormones Peripheral resistance to thyroid hormones Disease phenotype 0
Category members Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus Disease phenotype 0
Category members Persistent hyperplastic primary vitreous Persistent hyperplastic primary vitreous Disease phenotype 0
Category members Persistent Mullerian duct syndrome Persistent Mullerian duct syndrome Disease phenotype 0
Category members PERSISTENT MULLERIAN DUCT SYNDROME TYPES I AND II PERSISTENT MULLERIAN DUCT SYNDROME TYPES I AND II Disease phenotype 0
Category members Peters anomaly (PAN) Peters anomaly (PAN) Disease phenotype 0
Category members PFEIFFER SYNDROME PFEIFFER SYNDROME Disease phenotype 0
Category members Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 Disease phenotype 0
Category members PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA Disease phenotype 0
Category members PIEBALDISM PIEBALDISM Disease phenotype 0
Category members Piebald trait Piebald trait Disease phenotype 0
Category members PITUITARY ADENOMA GROWTH HORMONE-SECRETING PITUITARY ADENOMA GROWTH HORMONE-SECRETING Disease phenotype 0
Category members PITUITARY HORMONE DEFICIENCY COMBINED 2 PITUITARY HORMONE DEFICIENCY COMBINED 2 Disease phenotype 0
Category members Pituitary stalk interruption syndrome Pituitary stalk interruption syndrome Disease phenotype 0
Category members POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; Disease phenotype 0
Category members POLYCYTHEMIA VERA POLYCYTHEMIA VERA Disease phenotype 0
Category members Polydactyly of a triphalangeal thumb bilateral Polydactyly of a triphalangeal thumb bilateral Disease phenotype 0
Category members Polydactyly of a triphalangeal thumb unilateral Polydactyly of a triphalangeal thumb unilateral Disease phenotype 0
Category members POLYDACTYLY PREAXIAL II POLYDACTYLY PREAXIAL II Disease phenotype 0
Category members Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 Disease phenotype 0
Category members Pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 Disease phenotype 0
Category members PORPHYRIA CUTANEA TARDA PORPHYRIA CUTANEA TARDA Disease phenotype 0
Category members Postaxial polydactyly type A bilateral Postaxial polydactyly type A bilateral Disease phenotype 0
Category members Posterior polar cataract Posterior polar cataract Disease phenotype 0
Category members Postsynaptic congenital myasthenic syndromes Postsynaptic congenital myasthenic syndromes Disease phenotype 0
Category members Potocki-Shaffer syndrome Potocki-Shaffer syndrome Disease phenotype 0
Category members Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to imprinting mutation Disease phenotype 0
Category members Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Disease phenotype 0
Category members Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Disease phenotype 0
Category members Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Disease phenotype 0
Category members Precursor T-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia Disease phenotype 0
Category members Primary biliary cirrhosis Primary biliary cirrhosis Disease phenotype 0
Category members Primary ciliary dyskinesia Primary ciliary dyskinesia Disease phenotype 0
Category members primary congenital glaucoma type 3A (GLC3A) primary congenital glaucoma type 3A (GLC3A) Disease phenotype 0
Category members Primary erythermalgia Primary erythermalgia Disease phenotype 0
Category members Primary Fanconi syndrome Primary Fanconi syndrome Disease phenotype 0
Category members Primary pigmented nodular adrenocortical disease Primary pigmented nodular adrenocortical disease Disease phenotype 0
Category members Primary sclerosing cholangitis Primary sclerosing cholangitis Disease phenotype 0
Category members Primordial Dwarfism Primordial Dwarfism Disease phenotype 0
Category members Progressive cerebello-cerebral atrophy Progressive cerebello-cerebral atrophy Disease phenotype 0
Category members PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS Disease phenotype 0
Category members Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 Disease phenotype 0
Category members PROSTATE CANCER PROSTATE CANCER Disease phenotype 0
Category members Proteus syndrome Proteus syndrome Disease phenotype 0
Category members Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 1 Disease phenotype 0
Category members Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 2 Disease phenotype 0
Category members Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 3 Disease phenotype 0
Category members Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B Disease phenotype 0
Category members PSEUDOHYPOPARATHYROIDISM TYPE IB PSEUDOHYPOPARATHYROIDISM TYPE IB Disease phenotype 0
Category members PSORIATIC ARTHRITIS SUSCEPTIBILITY TO PSORIATIC ARTHRITIS SUSCEPTIBILITY TO Disease phenotype 0
Category members PULMONARY VENOOCCLUSIVE DISEASE PULMONARY VENOOCCLUSIVE DISEASE Disease phenotype 0
Category members Pulverulent cataract Pulverulent cataract Disease phenotype 0
Category members Pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia Disease phenotype 0
Category members PYROPOIKILOCYTOSIS HEREDITARY PYROPOIKILOCYTOSIS HEREDITARY Disease phenotype 0
Category members Radial hemimelia bilateral Radial hemimelia bilateral Disease phenotype 0
Category members Radial hemimelia unilateral Radial hemimelia unilateral Disease phenotype 0
Category members Rare isolated myopia Rare isolated myopia Disease phenotype 0
Category members RENAL CELL CARCINOMA NONPAPILLARY RENAL CELL CARCINOMA NONPAPILLARY Disease phenotype 0
Category members RENAL HYPODYSPLASIA/APLASIA 1 RENAL HYPODYSPLASIA/APLASIA 1 Disease phenotype 0
Category members RENAL TUBULAR DYSGENESIS RENAL TUBULAR DYSGENESIS Disease phenotype 0
Category members Renal tubular dysgenesis of genetic origin Renal tubular dysgenesis of genetic origin Disease phenotype 0
Category members RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS Disease phenotype 0
Category members RESTRICTIVE DERMOPATHY LETHAL RESTRICTIVE DERMOPATHY LETHAL Disease phenotype 0
Category members Retinitis pigmentosa Retinitis pigmentosa Disease phenotype 0
Category members RETINITIS PIGMENTOSA 7 RETINITIS PIGMENTOSA 7 Disease phenotype 0
Category members RETINITIS PUNCTATA ALBESCENS RETINITIS PUNCTATA ALBESCENS Disease phenotype 0
Category members RETINOPATHY OF PREMATURITY RETINOPATHY OF PREMATURITY Disease phenotype 0
Category members RHABDOMYOSARCOMA 2 RHABDOMYOSARCOMA 2 Disease phenotype 0
Category members RHEUMATOID ARTHRITIS RHEUMATOID ARTHRITIS Disease phenotype 0
Category members RHEUMATOID ARTHRITIS SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS SYSTEMIC JUVENILE Disease phenotype 0
Category members Rh deficiency syndrome Rh deficiency syndrome Disease phenotype 0
Category members Riboflavin transporter deficiency Riboflavin transporter deficiency Disease phenotype 0
Category members RIEGER ANOMALY RIEGER ANOMALY Disease phenotype 0
Category members ROBINOW SYNDROME AUTOSOMAL DOMINANT ROBINOW SYNDROME AUTOSOMAL DOMINANT Disease phenotype 0
Category members Rolandic epilepsy - speech dyspraxia Rolandic epilepsy - speech dyspraxia Disease phenotype 0
Category members Romano-Ward syndrome Romano-Ward syndrome Disease phenotype 0
Category members Rotor syndrome Rotor syndrome Disease phenotype 0
Category members ROUSSY-LEVY SYNDROME ROUSSY-LEVY SYNDROME Disease phenotype 0
Category members SAETHRE-CHOTZEN SYNDROME SAETHRE-CHOTZEN SYNDROME Disease phenotype 0
Category members Saldino-Mainzer syndrome Saldino-Mainzer syndrome Disease phenotype 0
Category members Sarcoidosis Sarcoidosis Disease phenotype 0
Category members Schizencephaly Schizencephaly Disease phenotype 0
Category members SCHIZOPHRENIA SCHIZOPHRENIA Disease phenotype 0
Category members SCHIZOPHRENIA 9 SCHIZOPHRENIA 9 Disease phenotype 0
Category members SCLEROSTEOSIS SCLEROSTEOSIS Disease phenotype 0
Category members SELF-HEALING COLLODION BABY SELF-HEALING COLLODION BABY Disease phenotype 0
Category members Semilobar holoprosencephaly Semilobar holoprosencephaly Disease phenotype 0
Category members Sensory ataxic neuropathy - dysarthria - ophthalmoparesis Sensory ataxic neuropathy - dysarthria - ophthalmoparesis Disease phenotype 0
Category members SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS Disease phenotype 0
Category members Septopreoptic holoprosencephaly Septopreoptic holoprosencephaly Disease phenotype 0
Category members SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE Disease phenotype 0
Category members Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Disease phenotype 0
Category members Severe combined immunodeficiency with skin granulomas Severe combined immunodeficiency with skin granulomas Disease phenotype 0
Category members Severe congenital nemaline myopathy Severe congenital nemaline myopathy Disease phenotype 0
Category members Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Disease phenotype 0
Category members Severe generalized recessive dystrophic epidermolysis bullosa Severe generalized recessive dystrophic epidermolysis bullosa Disease phenotype 0
Category members Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability and progressive spastic paraplegia Disease phenotype 0
Category members Sheldon-Hall syndrome Sheldon-Hall syndrome Disease phenotype 0
Category members Short rib-polydactyly syndrome Majewski type Short rib-polydactyly syndrome Majewski type Disease phenotype 0
Category members Short rib-polydactyly syndrome Verma-Naumoff type Short rib-polydactyly syndrome Verma-Naumoff type Disease phenotype 0
Category members Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Disease phenotype 0
Category members SHORT STATURE IDIOPATHIC AUTOSOMAL SHORT STATURE IDIOPATHIC AUTOSOMAL Disease phenotype 0
Category members Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Disease phenotype 0
Category members SHPRINTZEN-GOLDBERG SYNDROME SHPRINTZEN-GOLDBERG SYNDROME Disease phenotype 0
Category members Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Disease phenotype 0
Category members Single ventricular septal defect Single ventricular septal defect Disease phenotype 0
Category members SITOSTEROLEMIA SITOSTEROLEMIA Disease phenotype 0
Category members Situs ambiguus Situs ambiguus Disease phenotype 0
Category members SMITH-MCCORT DYSPLASIA SMITH-MCCORT DYSPLASIA Disease phenotype 0
Category members SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 Disease phenotype 0
Category members Sodium channelopathy-related small fiber neuropathy Sodium channelopathy-related small fiber neuropathy Disease phenotype 0
Category members Solitary fibrous tumor Solitary fibrous tumor Disease phenotype 0
Category members Spinal muscular atrophy with respiratory distress Spinal muscular atrophy with respiratory distress Disease phenotype 0
Category members Split hand-split foot malformation Split hand-split foot malformation Disease phenotype 0
Category members Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Disease phenotype 0
Category members SQUAMOUS CELL CARCINOMA HEAD AND NECK SQUAMOUS CELL CARCINOMA HEAD AND NECK Disease phenotype 0
Category members Squamous cell carcinoma of head and neck Squamous cell carcinoma of head and neck Disease phenotype 0
Category members STARGARDT DISEASE STARGARDT DISEASE Disease phenotype 0
Category members STROKE ISCHEMIC STROKE ISCHEMIC Disease phenotype 0
Category members Subcortical band heterotopia Subcortical band heterotopia Disease phenotype 0
Category members SUDDEN INFANT DEATH SYNDROME SUDDEN INFANT DEATH SYNDROME Disease phenotype 0
Category members Synaptic congenital myasthenic syndromes Synaptic congenital myasthenic syndromes Disease phenotype 0
Category members Syndactyly type 4 Syndactyly type 4 Disease phenotype 0
Category members Syndromic diarrhea Syndromic diarrhea Disease phenotype 0
Category members Synovial sarcoma Synovial sarcoma Disease phenotype 0
Category members Systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis Disease phenotype 0
Category members T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Disease phenotype 0
Category members Takayasu arteritis Takayasu arteritis Disease phenotype 0
Category members TANGIER DISEASE TANGIER DISEASE Disease phenotype 0
Category members TESTICULAR GERM CELL TUMOR TESTICULAR GERM CELL TUMOR Disease phenotype 0
Category members Testicular non seminomatous germ cell tumor Testicular non seminomatous germ cell tumor Disease phenotype 0
Category members Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida aperta Disease phenotype 0
Category members Thoracolumbosacral spina bifida cystica Thoracolumbosacral spina bifida cystica Disease phenotype 0
Category members THROMBOCYTOPENIA 2 THROMBOCYTOPENIA 2 Disease phenotype 0
Category members THYROID CARCINOMA HURTHLE CELL THYROID CARCINOMA HURTHLE CELL Disease phenotype 0
Category members Thyroid hypoplasia Thyroid hypoplasia Disease phenotype 0
Category members Thyrotoxic periodic paralysis Thyrotoxic periodic paralysis Disease phenotype 0
Category members TORG-WINCHESTER SYNDROME TORG-WINCHESTER SYNDROME Disease phenotype 0
Category members Total congenital cataract Total congenital cataract Disease phenotype 0
Category members Total spina bifida aperta Total spina bifida aperta Disease phenotype 0
Category members Total spina bifida cystica Total spina bifida cystica Disease phenotype 0
Category members Transient neonatal diabetes mellitus Transient neonatal diabetes mellitus Disease phenotype 0
Category members Translocation renal cell carcinoma Translocation renal cell carcinoma Disease phenotype 0
Category members tricho-rhino-phalangeal syndrome type 2 (TRPS2) tricho-rhino-phalangeal syndrome type 2 (TRPS2) Disease phenotype 0
Category members TRICHORHINOPHALANGEAL SYNDROME TYPE II TRICHORHINOPHALANGEAL SYNDROME TYPE II Disease phenotype 0
Category members TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY Disease phenotype 0
Category members Triphalangeal thumb - polysyndactyly syndrome Triphalangeal thumb - polysyndactyly syndrome Disease phenotype 0
Category members Triple A syndrome Triple A syndrome Disease phenotype 0
Category members Trismus - pseudocamptodactyly Trismus - pseudocamptodactyly Disease phenotype 0
Category members Typical nemaline myopathy Typical nemaline myopathy Disease phenotype 0
Category members ULLRICH CONGENITAL MUSCULAR DYSTROPHY ULLRICH CONGENITAL MUSCULAR DYSTROPHY Disease phenotype 0
Category members Unverricht-Lundborg disease Unverricht-Lundborg disease Disease phenotype 0
Category members Upper thoracic spina bifida aperta Upper thoracic spina bifida aperta Disease phenotype 0
Category members Upper thoracic spina bifida cystica Upper thoracic spina bifida cystica Disease phenotype 0
Category members Usher syndrome type 1 Usher syndrome type 1 Disease phenotype 0
Category members Usher syndrome type 2 Usher syndrome type 2 Disease phenotype 0
Category members Usher syndrome type 3 Usher syndrome type 3 Disease phenotype 0
Category members USHER SYNDROME TYPE I USHER SYNDROME TYPE I Disease phenotype 0
Category members USHER SYNDROME TYPE IIC USHER SYNDROME TYPE IIC Disease phenotype 0
Category members Van der Woude syndrome Van der Woude syndrome Disease phenotype 0
Category members VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 4 VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 4 Disease phenotype 0
Category members Vitiligo-associated autoimmune disease Vitiligo-associated autoimmune disease Disease phenotype 0
Category members Waardenburg-Shah syndrome Waardenburg-Shah syndrome Disease phenotype 0
Category members WAGR syndrome WAGR syndrome Disease phenotype 0
Category members Weaver syndrome Weaver syndrome Disease phenotype 0
Category members Weill-Marchesani syndrome Weill-Marchesani syndrome Disease phenotype 0
Category members Well-differentiated liposarcoma Well-differentiated liposarcoma Disease phenotype 0
Category members West syndrome West syndrome Disease phenotype 0
Category members WEYERS ACROFACIAL DYSOSTOSIS WEYERS ACROFACIAL DYSOSTOSIS Disease phenotype 0
Category members Williams syndrome Williams syndrome Disease phenotype 0
Category members Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Disease phenotype 0
Category members Wolfram syndrome Wolfram syndrome Disease phenotype 0
Category members Woolly hair Woolly hair Disease phenotype 0
Category members X-linked centronuclear myopathy X-linked centronuclear myopathy Disease phenotype 0
Category members X-linked diffuse leiomyomatosis - Alport syndrome X-linked diffuse leiomyomatosis - Alport syndrome Disease phenotype 0
Category members X-linked hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia Disease phenotype 0
Category members X-linked nonsyndromic sensorineural deafness type DFN X-linked nonsyndromic sensorineural deafness type DFN Disease phenotype 0
Category members Young adult-onset Parkinsonism Young adult-onset Parkinsonism Disease phenotype 0
Category members ZELLWEGER SYNDROME ZELLWEGER SYNDROME Disease phenotype 0
Category members Zellweger syndrome (ZWS) Zellweger syndrome (ZWS) Disease phenotype 0
Category members Zonular cataract Zonular cataract Disease phenotype 0


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