Disease Browser
|
..Starting node ..Diseases (C)
|
Child Nodes:
|
........3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271) |
........3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739) L: 00484; |
........3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248) |
........AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050) |
........ABDOMINAL OBESITY-METABOLIC SYNDROME 1 (OMIM:605552) |
........ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812) |
........ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250) |
........ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510) |
........ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908) |
........Animal Diseases (D000820) 139 |
........ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT (OMIM:617468) |
........ASPLENIA, ISOLATED CONGENITAL (OMIM:271400) |
........ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900) |
........AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500) |
........AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499) |
........AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482) |
........B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452) |
........Bacterial Infections and Mycoses (D001423) 620 |
........BARAITSER-WINTER SYNDROME 1 (OMIM:243310) |
........BARAITSER-WINTER SYNDROME 2 (OMIM:614583) |
........BRACHYDACTYLY, TYPE E1 (OMIM:113300) |
........BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001) |
........CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000) |
........Cardiovascular Diseases (D002318) 1025 C:12 |
........CATEL-MANZKE SYNDROME (OMIM:616145) |
........CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875) |
........CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706) |
........Chemically-Induced Disorders (D064419) 111 C:1 |
........CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884) |
........CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570) |
........CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776) |
........CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230) |
........COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426) L: 00090; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651) L: 00446; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652) L: 00447; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016) L: 00443; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654) L: 00448; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650) L: 00480; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276) L: 00639; |
........COENZYME Q10 DEFICIENCY, PRIMARY, 8 (OMIM:616733) L: 00640; |
........Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904 C:68 |
........CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095) |
........COUSIN SYNDROME (OMIM:260660) |
........COWDEN SYNDROME 4 (OMIM:615107) |
........COWDEN SYNDROME 5 (OMIM:615108) |
........COWDEN SYNDROME 6 (OMIM:615109) |
........COWDEN SYNDROME 7 (OMIM:616858) |
........CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150) |
........CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438) |
........D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515) |
........DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837) |
........DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092) |
........DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429) |
........DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, (OMIM:609006) |
........DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072) |
........Digestive System Diseases (D004066) 640 C:9 |
........Disorders of Environmental Origin (D007280) 4 |
........DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 (OMIM:613989) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 (OMIM:613990) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (OMIM:613987) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 (OMIM:615190) |
........DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353) |
........ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600) |
........ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100) |
........EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557) |
........Endocrine System Diseases (D004700) 742 C:3 |
........Eye Diseases (D005128) 1278 C:19 |
........Female Urogenital Diseases and Pregnancy Complications (D005261) 962 C:4 |
........GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126) |
........GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800) |
........GREENBERG DYSPLASIA (OMIM:215140) |
........Hemic and Lymphatic Diseases (D006425) 790 C:1 |
........HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021) |
........HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280) |
........HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013) |
........HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300) |
........HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207) |
........HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250) |
........HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900) |
........HYPOTRICHOSIS 2 (OMIM:146520) |
........HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940) |
........Immune System Diseases (D007154) 597 C:2 |
........IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860) |
........IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069) |
........IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910) |
........IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911) |
........KERATOSIS PILARIS ATROPHICANS (OMIM:604093) |
........KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702) |
........L-FERRITIN DEFICIENCY (OMIM:615604) |
........LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342) |
........LOEYS-DIETZ SYNDROME 2 (OMIM:610168) |
........MACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834) |
........Male Urogenital Diseases (D052801) 765 C:4 |
........MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000) |
........MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926) |
........MEGALOBLASTIC ANEMIA 1 (OMIM:261100) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456) |
........MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 (OMIM:615134) |
........Mental Disorders (D001523) 1080 C:11 |
........MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354) |
........METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646) |
........MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950) |
........MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760) |
........MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458) |
........MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750) |
........MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000) L: 00017; |
........MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041) L: 00026; |
........MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560) L: 00030; |
........MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662) L: 00033; |
........MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036; |
........MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400) L: 00038; |
........MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500) |
........MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600) |
........MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300) |
........MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600) |
........MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299) L: 00044; |
........MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290) |
........MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500) |
........Musculoskeletal Diseases (D009140) 2320 C:37 |
........MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948) |
........MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949) |
........MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046) |
........MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929) |
........MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259) |
........MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511) |
........MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869) |
........MYOPATHY, SPHEROID BODY (OMIM:182920) |
........MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231) |
........NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600) |
........NEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800) |
........Neoplasms (D009369) 1125 C:1 |
........NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199) |
........Nervous System Diseases (D009422) 3641 C:86 |
........NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008) |
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600) |
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298) L: 00422; |
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 (OMIM:300894) |
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643) |
........NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721) |
........NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563) |
........Nutritional and Metabolic Diseases (D009750) 1518 C:92 |
........Occupational Diseases (D009784) 28 |
........OGDEN SYNDROME (OMIM:300855) |
........Otorhinolaryngologic Diseases (D010038) 602 C:11 |
........OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150) |
........PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099) |
........PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000) |
........PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400) |
........PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735) |
........Parasitic Diseases (D010272) 178 |
........Pathological Conditions, Signs and Symptoms (D013568) 3149 C:40 |
........PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325) |
........POLYDACTYLY, PREAXIAL II (OMIM:174500) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961) |
........PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809) |
........PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900) |
........PSEUDO-TORCH SYNDROME 1 (OMIM:251290) |
........PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580) |
........RENAL TUBULAR DYSGENESIS (OMIM:267430) |
........Respiratory Tract Diseases (D012140) 422 |
........SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430) |
........SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800) |
........Skin and Connective Tissue Diseases (D017437) 1491 C:2 |
........SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE (OMIM:613672) L: 00083; |
........SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487) |
........SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560) |
........SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640) |
........SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095) |
........Stomatognathic Diseases (D009057) 594 |
........THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441) |
........THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304) |
........VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547) |
........VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772) |
........VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS (OMIM:615441) |
........Virus Diseases (D014777) 307 |
........VISCERAL MYOPATHY (OMIM:155310) |
........WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580) |
........WIEDEMANN-STEINER SYNDROME (OMIM:605130) |
........WITTEVEEN-KOLK SYNDROME (OMIM:613406) |
........WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300) |
........Wounds and Injuries (D014947) 274 |
Sister Nodes: |
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
|