| Entry |
Name |
Description |
Category |
Pathway |
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H02928
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Ocular pterygium-digital keloid dysplasia syndrome
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Ocular pterygium-digital keloid dysplasia syndrome (OPDKD) manifests as corneal vascular overgrowth in early childhood later followed by keloid formation on digits. It has been reported that OPDKD is associated ...
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Congenital malformation
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H02929
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Heme oxygenase-1 deficiency
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Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder characterized by intravascular haemolysis with peculiarly low bilirubin levels, nephritis, and features of systemic inflammation ...
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Inherited metabolic disorder
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H02930
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Transient neonatal cyanosis
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Transient neonatal cyanosis is a rare inherited fetal hemoglobinopathy caused by mutations in the gamma-globin gene, HBG2. Clinical clues include reduced hemoglobin oxygen saturation without arterial hypoxemia ...
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Hematologic disease
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H02931
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Primary lymphedema with myelodysplasia
Emberger syndrome
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Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare autosomal dominant disorder characterized by lower limb lymphedema of childhood onset and hematological abnormalities ...
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Congenital malformation
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H02932
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Scaphocephaly, maxillary retrusion, and impaired intellectual development
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Scaphocephaly, maxillary retrusion, and impaired intellectual development is an autosomal dominant craniosynostosis syndrome characterised by scaphocephaly, macrocephaly, severe maxillary retrusion, and ...
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Congenital malformation
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H02933
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Delpire-McNeill syndrome
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Delpire-McNeill syndrome (DELMNES) is a novel neurodevelopmental disorder with developmental delay or intellectual disability ranging from mild to severe. Some patients have sensorineural deafness. SLC12A2 ...
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Congenital malformation
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H02934
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Kilquist syndrome
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Kilquist syndrome (KILQS) is a novel autosomal recessive syndrome characterized by global developmental delay, sensorineural hearing loss, gastrointestinal abnormalities, and absent salivation. It has ...
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Congenital malformation
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H02935
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Ichthyosis, spastic quadriplegia, and impaired intellectual development
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Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) is an autosomal recessive neuro-ichthyotic disease characterized by congenital ichthyosis, seizures, mental retardation, ...
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Congenital malformation
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H02936
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Hawkinsinuria
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Hawkinsinuria is a rare autosomal dominant disorder of tyrosine metabolism characterized by persistent metabolic acidosis and failure to thrive. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene ...
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Inherited metabolic disorder
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H02937
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Preeclampsia/eclampsia
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Preeclampsia and eclampsia are hypertensive disorders of pregnancy associated with abnormal placental vascular development. The systemic angiogenic imbalance, endothelial dysfunction and proinflammatory ...
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Reproductive system disease
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H02938
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L-ferritin deficiency
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L-ferritin deficiency (LFTD) is a rare genetic hematologic disease characterized by hypoferritinemia. Clinical symptoms include idiopathic generalized seizures and atypical restless legs syndrome. Asymptomatic ...
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Hematologic disease
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H02939
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Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp
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Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder. It has been reported that mutations in TBC1D24 cause EPRPDC. It is ...
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Nervous system disease
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H02940
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Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
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Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is characterized by late onset cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. It has been reported ...
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Nervous system disease
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H02941
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Multiple symmetric lipomatosis with or without axonal peripheral neuropathy
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Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MSL with or without axonal peripheral neuropathy is a ...
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Skin disease
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H02942
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Melanoma-astrocytoma syndrome
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Melanoma-astrocytoma syndrome is a rare autosomal dominant tumor predisposition syndrome characterized by association of cutaneous malignant melanoma and tumors of central nervous system, generally astrocytomas ...
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Cancer
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H02943
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Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
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Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is a novel multiple malformations syndrome caused by missense mutations in KMT2D. KMT2D encodes ...
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Congenital malformation
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H02944
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Hereditary mucoepithelial dysplasia
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Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema ...
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Congenital malformation
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H02945
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Schwannomatosis
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Schwannomatosis (SWN) is a third form of neurofibromatosis and is characterized by the predisposition for developing multiple schwannomas. It is clinically and genetically distinct from neurofibromatosis ...
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Congenital malformation
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H02946
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Congenital capillary malformations
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Congenital capillary malformations (CMC), also known as port-wine stains, are common congenital cutaneous capillary malformations. Most CMCs occur sporadically and present as a solitary lesion. CMC may ...
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Congenital malformation
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H02947
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Neuroocular syndrome
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Neuroocular syndrome (NOC) is a novel syndrome with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities. It has been reported that mutations in PRR12 cause this syndrome ...
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Congenital malformation
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H02948
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Hereditary neutrophilia
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Hereditary neutrophilia is a rare genetic immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors ...
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Immune system disease
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H02949
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Robinow-Sorauf syndrome
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Robinow-Sorauf syndrome is an autosomal dominant syndrome characterized by craniosynostosis and duplication of the hallux. It has been reported that mutations in TWIST1 cause this syndrome. TWIST1 encodes ...
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Congenital malformation
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H02950
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Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
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Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) is a novel autosomal recessive multiple systemic disorder. It has been ...
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Congenital malformation
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H02951
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Ventriculomegaly with cystic kidney disease
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Ventriculomegaly with cystic kidney disease (VMCKD) is a novel syndrome characterized by greatly elevated maternal serum alpha-fetoprotein and/or amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly ...
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Congenital malformation
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H02952
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Autosomal recessive Leber-like hereditary optic neuropathy
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Leber hereditary optic atrophy (LHON) [DS:H00068] is an ophthalmological disorder, characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. LHON is generally ...
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Nervous system disease
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H02953
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Uruguay facio-cardio-musculo-skeletal syndrome
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Uruguay facio-cardio-musculo-skeletal syndrome (FCMSU) is an X-linked recessive syndrome characterized by pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and ...
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Congenital malformation
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H02954
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Steatocystoma multiplex
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Steatocystoma multiplex is a rare disorder characterized by multiple, asymptomatic, yellow-coloured to skin-coloured cystic lesions localised mainly to the arms, chest, axillae and neck. It is an autosomal ...
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Neoplasm
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H02955
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Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
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Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (CAOP) is a rare autosomal recessive disorder characterized by early-onset bilateral lens cataract, generalized nonscarring alopecia ...
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Congenital malformation
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H02956
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Gillessen-Kaesbach-Nishimura syndrome
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Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations. It has been reported that mutations ...
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Inherited metabolic disorder
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H02957
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ICHAD syndrome
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ICHAD syndrome is a novel disorder characterized by immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay. It has been reported that dominant negative variants ...
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Immune system disease
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H02958
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Immunodysregulation with variable immunodeficiency and autoimmunity
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Immunodysregulation with variable immunodeficiency and autoimmunity (IMDIA) is a combined immunodeficiency characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic ...
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Immune system disease
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H02959
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Li-Takada-Miyake syndrome
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Li-Takada-Miyake syndrome (LTMS) is a novel syndrome characterized by prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, and developmental delay. It has been reported ...
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Congenital malformation
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H02960
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Autosomal dominant adult-onset leukodystrophy without amyloid angiopathy
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Autosomal dominant adult-onset leukodystrophy without amyloid angiopathy (ADLDWA) is a novel adult onset leukodystrophy caused by truncating mutations in CST3. The main manifestations include recurrent ...
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Nervous system disease
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H02961
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Guillouet-Gordon syndrome
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Guillouet-Gordon syndrome (GGNS) is a novel multiple congenital anomalies-intellectual disability syndrome characterized by intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations ...
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Congenital malformation
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H02962
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Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism
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Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a novel autosomal-dominant syndrome caused by NR4A2 mutations. NR4A2 encodes ...
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Nervous system disease
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H02963
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X-linked parkinsonism with spasticity
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X-linked parkinsonism with spasticity (XPDS) is a familial parkinsonian disorder that presents either as typical adult onset Parkinson disease or earlier onset spasticity followed by parkinsonism. It has ...
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Nervous system disease
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H02964
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Sudden infant death syndrome
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Sudden infant death syndrome (SIDS) is defined as sudden and unanticipated death in an infant with no recognized lethal disorder after an investigation that includes autopsy, examination of the death scene ...
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Cardiovascular disease
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H02965
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Hoxha-Aliu syndrome
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Hoxha-Aliu syndrome (HXAL) is an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities, and cardiac malformation. Mutations in ERI1 have been reported to be associated ...
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Congenital malformation
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H02966
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Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
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Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is a novel recessive syndrome associated with PRDM13 mutation. Patients exhibit intellectual disability ...
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Congenital malformation
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H02967
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Ogden syndrome
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Ogden syndrome is a rare perinatal lethal disorder characterised by global developmental delay, craniofacial abnormalities, hypotonia, cardiac arrhythmia and an aged appearance with lax skin. It has been ...
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Endocrine and metabolic disease
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