| Entry |
Name |
Description |
Category |
Pathway |
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H02728
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Marbach-Schaaf neurodevelopmental syndrome
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Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B ...
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Congenital malformation
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H02729
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Ain-Naz type of dysostosis multiplex
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Ain-Naz type of dysostosis multiplex (DMAN) is a severe inherited skeletal dysplasia which resembles GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 ...
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Congenital malformation
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H02730
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Severe congenital liver disease
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Severe congenital liver disease (SCOLIV) is a multisystemic syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been ...
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Digestive system disease
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H02731
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Transient infantile hypertriglyceridemia
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Transient infantile hypertriglyceridemia (HTGTI) is a rare hypertriglyceridemia in infancy caused by mutations in GPD1 encoding glycerol-3-phosphate dehydrogenase. GPD1 catalyzes the reversible redox reaction ...
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Inherited metabolic disorder
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H02732
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Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
Regressive spondylometaphyseal dysplasia
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Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature ...
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Congenital malformation
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H02733
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Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
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Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ...
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Congenital malformation
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H02734
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Hengel-Maroofian-Schols syndrome
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Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by a global developmental delay, pyramidal tract involvement, microcephaly, short ...
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Congenital malformation
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H02735
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Diaphyseal medullary stenosis with malignant fibrous histiocytoma
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Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations ...
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Congenital malformation
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H02736
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Neurodegeneration and seizures due to copper transport defect
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Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive infantile-onset syndrome. The condition is characterized by hypotonia, global developmental delay, seizures ...
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Nervous system disease
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H02737
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Familial multinodular goiter
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Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic ...
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Endocrine and metabolic disease
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H02738
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Childhood-onset neurodegeneration with cerebellar atrophy
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Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia ...
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Nervous system disease
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H02739
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Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline
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Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like ...
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Nervous system disease
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H02740
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Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities
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Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is a rare early-onset neurodegeneration caused by gain-of-function mutations in CLCN6 ...
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Nervous system disease
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H02741
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Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline
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Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is a novel early-onset disorder caused by the gain-of-function mutation in CAPRIN1. CAPRIN1 is a ubiquitously expressed ...
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Nervous system disease
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H02742
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Congenital neuromuscular disorder with dysmorphic facies
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Congenital neuromuscular disorder with dysmorphic facies (NMDF) is a novel autosomal recessive disorder caused by loss-of-function mutations in FILIP1. Patients exhibit a broad spectrum of neurological ...
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Congenital malformation
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H02743
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KINSSHIP syndrome
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KINSSHIP syndrome is an autosomal dominant disorder characterized by horseshoe kidney, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. It has been reported ...
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Congenital malformation
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H02744
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Neurofacioskeletal syndrome with or without renal agenesis
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Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other ...
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Congenital malformation
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H02745
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Neuromuscular oculoauditory syndrome
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Neuromuscular oculoauditory syndrome (NMOAS) is a rare disease caused by mutations in DHX16. Patients share features of central nervous system anomalies and seizures. NMOAS can have varied presentations ...
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Congenital malformation
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H02746
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Alfadhel syndrome
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Alfadhel syndrome is a new syndrome characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine ...
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Congenital malformation
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H02747
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Oculogastrointestinal neurodevelopmental syndrome
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Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global ...
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Congenital malformation
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H02748
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Hepatorenocardiac degenerative fibrosis
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Hepatorenocardiac degenerative fibrosis (HRCDF) is a rare autosomal recessive disorder characterized by multiorgan fibrosis. Patients present progressive fibrotic liver disease and variable kidney and ...
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Congenital malformation
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H02749
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Bleeding disorder vascular-type
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Bleeding disorder vascular-type (BDVAS) is a novel autosomal dominant disorder associated with episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered ...
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Hematologic disease
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H02750
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Glutathionuria
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Glutathionuria is a rare disease caused by mutations in GGT1. Most patients presented involvement of the central nervous system in the form of moderate mental retardation, behavioral disturbance, and seizures ...
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Inherited metabolic disorder
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H02751
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Orthostatic hypotension
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Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ...
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Cardiovascular disease
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H02752
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Tan-Almurshedi syndrome
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Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature, and craniofacial anomalies. It has been reported ...
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Congenital malformation
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H02753
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Vertebral anomalies and variable endocrine and T-cell dysfunction
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Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac ...
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Congenital malformation
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H02754
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Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
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Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary ...
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Inherited metabolic disorder
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H02755
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Lui-Jee-Baron syndrome
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Lui-Jee-Baron syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been ...
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Congenital malformation
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H02756
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Congenital juvenile recurrent respiratory papillomatosis
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Juvenile recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. JRRP is associated with infection ...
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Neoplasm
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H02757
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Recurrent respiratory infections and failure to thrive with or without diarrhea
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Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is a rare genetic disorder characterized by recurrent lower respiratory infections, chronic diarrhoea, and failure ...
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Respiratory system disease
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H02758
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ACCES syndrome
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ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 ...
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Congenital malformation
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H02759
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Suleiman-El-Hattab syndrome
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Suleiman-El-Hattab syndrome is an autosomal recessive syndrome characterized by developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal ...
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Congenital malformation
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H02760
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BDV syndrome
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BDV syndrome is a novel syndrome characterized by morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause ...
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Inherited metabolic disorder
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H02761
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Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
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Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is a severe combined immunodeficiency resulting from MTHFD1 mutations. Variable phenotypes, including megaloblastic ...
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Inherited metabolic disorder
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H02762
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Osteo-oto-hepato-enteric syndrome
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Osteo-oto-hepato-enteric syndrome (OOHE) is a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility. It has been reported that mutations in UNC45A cause this syndrome. UNC45A ...
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Congenital malformation
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H02763
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Neurocardiofaciodigital syndrome
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Neurocardiofaciodigital syndrome (NCFD) is a new multiple congenital anomalies syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial ...
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Congenital malformation
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H02764
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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa ...
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Congenital malformation
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H02765
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Prieto syndrome
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Prieto syndrome (PRS) is a rare X-linked intellectual disability with variable epilepsy and structural brain abnormalities. It has been reported that mutations in WNK3 cause this syndrome. WNK3 is a chloride ...
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Congenital malformation
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H02766
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Radiohumeral fusions with other skeletal and craniofacial anomalies
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Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations ...
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Congenital malformation
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H02767
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Congenital disorder of deglycosylation
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Congenital disorder of deglycosylation (CDDG) is caused by loss of function of enzymes involved in free oligosaccharide (fOS) metabolism. FOSs are soluble oligosaccharide species generated during N-glycosylation ...
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Inherited metabolic disorder
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