| Entry |
Name |
Description |
Category |
Pathway |
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H02808
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Childhood-onset neurodegeneration with progressive microcephaly
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Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a novel severe neurodegenerative disease with microcephaly, hypotonia, and severe intellectual disability. It has been reported ...
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Congenital malformation
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H02809
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Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia
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Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is a novel progressive neurodegenerative syndrome. It has been reported that mutations in IREB2 cause this syndrome ...
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Nervous system disease
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H02810
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Intestinal dysmotility syndrome
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Intestinal dysmotility syndrome (IDMTS) is an extremely rare autosomal recessive fatal neonatal disease characterized by projectile vomiting, bloody diarrhea, and distended abdomen with multiple distended ...
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Digestive system disease
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H02811
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Aplasia or hypoplasia of the breasts and/or nipples
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Aplasia or hypoplasia of the breasts and/or nipples (BNAH) is a rare condition. Several terms have been used to classify abnormal breast development including athelia, amazia, and amastia. BNAH is mostly ...
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Congenital malformation
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H02812
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Otofacial neurodevelopmental syndrome
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Otofacial neurodevelopmental syndrome (OFNS) is a novel syndromic neurodevelopmental disorder characterized by global developmental delay, facial asymmetry and malformations of the outer ear. It has been ...
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Congenital malformation
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H02813
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Auroneurodental syndrome
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Auroneurodental syndrome (ANDS) is a novel genetic disorder characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphisms, developmental delay and mild proximal and ...
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Congenital malformation
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H02814
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Oculomotor-abducens synkinesis
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Oculomotor-abducens synkinesis (OCABSN) is the involuntary movement of the eyes or eyelids with a voluntary attempt at another eye or facial movement. It has been reported that mutations in ACKR3 cause ...
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Nervous system disease
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H02815
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Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
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Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is a rare multiple congenital anomaly syndrome. Although the clinical features show overlap with DOORS syndrome ...
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Congenital malformation
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H02816
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Developmental dysplasia of the hip
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Developmental dysplasia of the hip (DDH) is one of the most common congenital skeletal malformations that covers a spectrum of hip disorders ranging from mild dysplasia to irreducible dislocation. DDH ...
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Congenital malformation
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H02817
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Peripheral neuropathy, myopathy, hoarseness, and hearing loss
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Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is a rare autosomal dominant neuromuscular disorder with complex phenotypes. A mutation in MYH14 gene, which encodes a member of the ...
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Nervous system disease
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H02818
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Jeffries-Lakhani neurodevelopmental syndrome
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Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive multisystem syndrome characterized by developmental delay, early-onset epilepsy, and hypotonia. Some patients display cardiac ...
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Congenital malformation
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H02819
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Neonatal intractable myoclonus
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Neonatal intractable myoclonus (NEIMY) is a neurologic disorder characterized by severe infantile-onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest ...
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Nervous system disease
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H02820
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Progressive encephalopathy with amyotrophy and optic atrophy
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Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is an early-onset and progressive neurodegenerative encephalopathy with distal spinal muscular atrophy. Mutations in TBCE gene, encoding ...
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Nervous system disease
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H02821
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Sandestig-Stefanova syndrome
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Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly ...
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Congenital malformation
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H02822
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Lisch epithelial corneal dystrophy
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Lisch epithelial corneal dystrophy (LECD) is a rare corneal dystrophy with characteristic whorling pattern on clinical exam with distinct pathological findings that include the presence of giant vacuoles ...
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Nervous system disease
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H02823
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Osteosclerotic metaphyseal dysplasia
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Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones (predominantly at the metaphyses) and vertebrae ...
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Congenital malformation
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H02824
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Abnormal hair, joint laxity, and developmental delay
Pili torti-developmental delay-neurological abnormalities syndrome
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Abnormal hair, joint laxity, and developmental delay (HJDD) is a genetic disorder characterized by abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. Mutations in HEPHL1 gene ...
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Congenital malformation
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H02825
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Megalencephaly-polydactyly syndrome
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Megalencephaly-polydactyly syndrome (MPAPA) is a novel syndrome with multiple congenital anomalies, including megalencephaly, ventriculomegaly, postaxial polydactyly, distinctive facial features, and neuroblastoma ...
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Congenital malformation
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H02826
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Autoinflammation with episodic fever and immune dysregulation
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Autoinflammation with episodic fever and immune dysregulation (AIFID) is a novel autoinflammatory disorder characterized by recurrent fever, parotitis, joint inflammation, colitis, and chronicotitis media ...
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Immune system disease
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H02827
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Aplasia cutis-enamel dysplasia syndrome
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Aplasia cutis-enamel dysplasia syndrome (ACED) is a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies. It has been reported that mutations in FOSL2 cause this syndrome. FOSL2 ...
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Congenital malformation
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H02828
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Otosclerosis
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Otosclerosis (OTSC) is a common cause of adult-onset progressive hearing loss. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone ...
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Nervous system disease
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H02829
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Autoinflammation with arthritis and vasculitis
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Autoinflammation with arthritis and vasculitis (AIARV) is an early-onset chronic and systemic autoinflammation. It has been reported that mutations in TBK1 cause this syndrome. TBK1 encodes TANK binding ...
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Immune system disease
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H02830
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Arterial tortuosity-bone fragility syndrome
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Arterial tortuosity-bone fragility syndrome (ATBFS) is a novel cutis laxa syndrome characterized by arterial tortuosity, aneurysm formation, and osteopenia. It has been reported that loss-of-function mutations ...
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Congenital malformation
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H02831
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Acute transient encephalopathy
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Acute transient encephalopathy (ENPAT) is a novel disease characterized by recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. The patient brains displayed substantial ...
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Nervous system disease
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H02832
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Thiamine metabolism dysfunction syndrome
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Thiamine metabolism dysfunction syndrome (THMD) is a group of rare autosomal recessive encephalopathies caused by deficiencies of thiamine metabolism. Four genes, SLC19A3, SLC25A19, SLC19A2, and TPK1, ...
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Inherited metabolic disorder
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H02833
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Brain malformation renal syndrome
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Brain malformation renal syndrome (BMRS) is a novel syndrome characterized by Dandy-Walker malformation, kidney disease, and bone marrow failure. It has been reported that mutations in EXOC3L2 cause this ...
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Congenital malformation
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H02834
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Kariminejad-Reversade neurodevelopmental syndrome
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Kariminejad-Reversade neurodevelopmental syndrome (KAREVS) is a novel syndrome characterized by progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. It has been ...
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Congenital malformation
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H02835
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Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
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Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) is a rare syndromic congenital myelofibrosis caused by mutations in RBSN. RBSN encodes rabenosyn ...
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Hematologic disease
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H02836
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Bronchiectasis and nasal polyposis
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Bronchiectasis and nasal polyposis (BENP) is a novel chronic destructive airway disease characterized by bronchiectasis throughout all lung fields (upper, middle, and lower lobes) and severe chronic rhinosinusitis ...
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Respiratory system disease
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H02837
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Karayol-Borroto-Haghshenas neurodevelopmental syndrome
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Karayol-Borroto-Haghshenas neurodevelopmental syndrome (KBHS) is a novel neurodevelopmental disorder with intellectual disability, developmental delay, motor issues, seizures, dysmorphisms, and a specific ...
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Congenital malformation
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H02838
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Neurodevelopmental disorder with variable familial hypercholanemia
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Neurodevelopmental disorder with variable familial hypercholanemia (NEDFHCA) is a novel syndrome caused by mutations in WDR83OS. Clinical features include neurodevelopmental disorder, facial dysmorphism ...
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Congenital malformation
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H02839
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Infantile-onset neurodegeneration with optic atrophy and brain abnormalities
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Infantile-onset neurodegeneration with optic atrophy and brain abnormalities (NDOABA) is a novel syndrome characterized by global developmental delay, severe intellectual disability, hypotonia, limb spasticity ...
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Nervous system disease
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H02840
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Morimoto-Ryu-Malicdan neuromuscular syndrome
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Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) is a novel multisystemic disorder characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight. It has been reported ...
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Nervous system disease
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H02841
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Hydrops, lactic acidosis, and sideroblastic anemia
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Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is a severe multisystem metabolic disorder caused by mutations in LARS2. LARS2 encodes mitochondrial leucyl-tRNA synthetase, which is responsible ...
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Inherited metabolic disorder
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H02842
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Pan-Chung-Bellen syndrome
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Pan-Chung-Bellen syndrome (PCBS) is a novel syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. It has been reported that mutations in FRYL cause this syndrome ...
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Congenital malformation
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H02843
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Brain malformations and seizures by impaired function of TRiC
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Brain malformations and seizures by impaired function of TRiC is a novel group of disorders in the development of the central nervous system. They are caused by mutations in genes that encode subunits ...
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Congenital malformation
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H02844
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Palmoplantar keratoderma and congenital alopecia
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Palmoplantar keratoderma and congenital alopecia (PPKCA) is a rare autosomal dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. It has been reported ...
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Congenital malformation
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H02845
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Arteriovenous malformations of the brain
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Arteriovenous malformations of the brain are morphologically abnormal connections between arteries and veins in the brain vasculature. They are leading causes of hemorrhagic stroke in young adults and ...
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Congenital malformation
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H02846
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Global developmental delay, progressive ataxia, and elevated glutamine
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Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) is an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5' untranslated region of the gene encoding ...
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Inherited metabolic disorder
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H02847
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CASGID syndrome
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
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Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is an inborn error of metabolism caused by a glutaminase (GLS) hyperactivity variant, the enzyme ...
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Inherited metabolic disorder
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