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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00843 | Hartnup disorder | Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia ... | Inherited metabolic disorder | |
| H00844 |
Familial benign chronic pemphigus Hailey-Hailey disease |
Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused ... | Congenital malformation | |
| H00845 | Familial amyloidosis | The amyloidoses are a group of diseases in which proteins that are normally soluble deposit extracellularly in tissues as insoluble fibrils. The fibrils have a characteristic beta-pleated sheet configuration ... | Nervous system disease | |
| H00846 |
Fuhrmann syndrome Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly |
Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia ... | Congenital malformation | |
| H00847 |
Al-Awadi/Raas-Rothschild syndrome Ulna and fibula, absence of, with sever limb deficiency |
Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss ... | Congenital malformation | |
| H00848 | Ataxia with ocular apraxia | Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT) ... | Nervous system disease | |
| H00849 | Cerebral creatine deficiency syndrome | Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency ... | Inherited metabolic disorder | |
| H00850 |
Frontorhiny Median facial cleft syndrome Frontonasal dysplasia 1 |
Frontorhiny, also known as median facial cleft syndrome, is a recently characterized autosomal recessive frontonasal malformation with hypertelorism, abnormal nasal configuration, and cleft lip. This disorder ... | Congenital malformation | |
| H00851 | Proximal symphalangism | Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints. | Congenital malformation | |
| H00852 | Klippel-Feil syndrome | Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or ... | Congenital malformation | |
| H00853 | Cenani-Lenz syndactyly syndrome | Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density ... | Congenital malformation | |
| H00854 | Wolfram syndrome | Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 ... | Endocrine and metabolic disease | |
| H00855 | Triphalangeal thumb-polysyndactyly syndrome | Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects ... | Congenital malformation | |
| H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease | |
| H00857 | Oligodontia-colorectal cancer syndrome | Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least ... | Congenital malformation | |
| H00858 | Marie-Unna hereditary hypotrichosis | Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of hereditary hair loss. It is characterized by sparse or absent scalp hair, eyebrows, and eyelashes at birth. Coarse and wiry hair ... | Congenital malformation | |
| H00859 | Guttmacher syndrome | Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs ... | Congenital malformation | |
| H00860 | Benign hereditary chorea | Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis ... | Nervous system disease | |
| H00861 | Pancreatic agenesis | Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter ... | Digestive system disease | |
| H00862 | Tourette syndrome | Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated ... | Mental and behavioural disorder | |
| H00863 | Spondylo-megaepiphyseal-metaphyseal dysplasia | Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... | Congenital malformation | |
| H00864 | Trichotillomania | Trichotillomania (TTM) is a chronic behavioral disorder characterized by the irresistible urge to pull out one's hair, resulting in noticeable hair loss. Mutations in SLITRK1 are found in patients with ... | Mental and behavioural disorder | |
| H00865 | Lethal congenital contractural syndrome | Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... | Congenital malformation | |
| H00866 | Trichothiodystrophy | Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three ... | Skin disease | |
| H00867 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The ... | Congenital malformation | |
| H00868 | Stapes ankylosis with broad thumb and toes | This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms ... | Congenital malformation | |
| H00869 |
Leukoencephalopathy with vanishing white matter Vanishing white matter disease |
Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood ... | Nervous system disease | |
| H00870 | Brachydactyly-syndactyly syndrome | This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] ... | Congenital malformation | |
| H00871 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00872 |
Trismus-pseudocamptodactyly syndrome Hecht-Beals syndrome Dutch-Kentucky syndrome |
Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... | Congenital malformation | |
| H00873 |
Cousin syndrome Pelviscapular dysplasia |
Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial ... | Congenital malformation | |
| H00874 |
Leukoencephalopathy with dystonia and motor neuropathy Sterol carrier protein 2 deficiency |
Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown ... | Inherited metabolic disorder, Peroxisomal disease | |
| H00875 | Megaloencephalic leukoencephalopathy with subcortical cysts | Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline ... | Nervous system disease | |
| H00876 | Mismatch repair deficiency | Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic ... | Cancer | |
| H00877 | Brain small vessel disease | Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset ... | Cardiovascular disease | |
| H00878 | Cystic leukoencephalopathy without megalencephaly | Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with ... | Inherited metabolic disorder | |
| H00879 | Perry syndrome | Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular ... | Neurodegenerative disease | |
| H00880 | Dyschromatosis symmetrica hereditaria | Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented ... | Skin disease | |
| H00881 | Li-Fraumeni syndrome | Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, ... | Neoplasm | |
| H00882 | Cocoon syndrome | Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound ... | Congenital malformation |
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