| Entry |
Name |
Description |
Category |
Pathway |
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H02648
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Acantholytic blistering of the oral and laryngeal mucosa
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Acantholytic blistering of the oral and laryngeal mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and ...
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Digestive system disease
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H02649
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Autosomal dominant slowed nerve conduction velocity
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Autosomal dominant slowed nerve conduction velocity (SNCV) is a rare hereditary neuropathy characterized by thin myelination of peripheral nerves. Mutations in ARHGEF10 have been identified. ARHGEF10 encodes ...
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Nervous system disease
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H02650
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Menke-Hennekam syndrome
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Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the ...
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Congenital malformation
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H02651
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Lessel-Kreienkamp syndrome
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Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder caused by germline mutations in AGO2 that encodes a member of the Argonaute family of proteins. AGO2 and associated miRNAs form the ...
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Congenital malformation
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H02652
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Macrocephaly, acquired, with impaired intellectual development
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Macrocephaly, acquired, with impaired intellectual development (MACID) is a novel syndrome characterized by intellectual disability with macrocephaly, motor delay, hypotonia, behavioral abnormalities, ...
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Congenital malformation
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H02653
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Faundes-Banka syndrome
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Faundes-Banka syndrome (FABAS) is rare neurodevelopmental disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this ...
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Congenital malformation
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H02654
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Boudin-Mortier syndrome
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Boudin-Mortier syndrome is a novel syndrome characterized by tall stature, long digits, and variable connective tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported ...
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Congenital malformation
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H02655
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Retinal dystrophy and microvillus inclusion disease
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Retinal dystrophy and microvillus inclusion disease (RDMVID) is a novel syndrome characterized by early-onset severe retinal dystrophy and hereditary diarrhea. It has been reported that mutations in the ...
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Congenital malformation
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H02656
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X-linked multisystem autoinflammatory disease with immune dysregulation
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X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is a rare inborn disease of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation ...
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Immune system disease
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H02657
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Sarcosinemia
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Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it ...
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Inherited metabolic disorder
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H02658
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X-linked congenital hemolytic anemia
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X-linked congenital hemolytic anemia (HACXL) is a recently reported hemolytic anemia caused by mutations in the ATP11C. ATP11C encodes a major flippase in human erythrocytes. Flippase transports phospholipids ...
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Hematologic disease
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H02659
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Dentici-Novelli neurodevelopmental syndrome
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Dentici-Novelli neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 ...
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Congenital malformation
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H02660
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Autoinflammation with pulmonary and cutaneous vasculitis
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Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV ...
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Immune system disease
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H02661
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Subcutaneous panniculitis-like T-cell lymphoma
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Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger patients and associated with hemophagocytic lymphohistiocytosis. Recently, germline ...
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Cancer
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H02662
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Sulfide quinone oxidoreductase deficiency
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Sulfide quinone oxidoreductase deficiency (SQORD) is a neurological disorder like Leigh syndrome [DS:H01354]. It is characterized by coma with lactic acidosis, and lesions in the basal ganglia. It has ...
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Inherited metabolic disorder
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H02663
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Braddock-Carey syndrome
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Braddock-Carey syndrome (BRDCS) is a multiple malformation syndrome characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence, and agenesis of the corpus callosum. The genetic etiology ...
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Congenital malformation
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H02664
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Joint contracture, osteochondromas, and B-cell lymphoma
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Joint contracture, osteochondromas, and B-cell lymphoma (JCOSL) is caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin ...
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Cancer
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H02665
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Reticulate acropigmentation of Kitamura
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Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting ...
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Skin disease
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H02666
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Chilton-Okur-Chung neurodevelopmental syndrome
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Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is associated with developmental delay, intellectual disability, autism, hypotonia, and structural brain abnormalities. It has been reported that ...
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Congenital malformation
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H02667
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Takenouchi-Kosaki syndrome
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Takenouchi-Kosaki syndrome (TKS) is a recently recognized autosomal dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly ...
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Congenital malformation
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H02668
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Heyn-Sproul-Jackson syndrome
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Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause ...
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Congenital malformation
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H02669
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Inflammatory bowel disease, immunodeficiency, and encephalopathy
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Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and ...
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Immune system disease
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H02670
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Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
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Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a novel congenital sideroblastic anemia and immunodeficiency syndrome with additional features resembling ...
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Hematologic disease
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H02671
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Sodium-dependent multivitamin transporter deficiency
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Sodium-dependent multivitamin transporter deficiency (SMVTD) is a recently described inherited metabolic disorder with so far a broad phenotypic spectrum ranging from feeding problems, failure to thrive ...
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Inherited metabolic disorder
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H02672
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Systemic autoinflammatory disease with vasculitis
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Systemic autoinflammatory disease with vasculitis (SAIDV) is a severe perinatal-onset, systemic inflammation. It has been reported that gain-of-function mutations in LYN associated with this disease. LYN ...
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Immune system disease
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H02673
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Craniofacial microsomia
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Craniofacial microsomia (CFM) also termed hemifacial microsomia, oculo-auricular-vertebral spectrum (OAVS) or Goldenhar syndrome, is a craniofacial developmental disorder of variable expressivity and severity ...
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Congenital malformation
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H02674
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Atrial standstill
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Atrial standstill (AS, ATRST) is a rare cardiac arrhythmia characterized by transient or persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished ...
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Cardiovascular disease
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H02675
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Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
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Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is a rare neurological disorder caused by mutations in ELOVL1. ELOVL1 catalyzes fatty acid elongation to produce very ...
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Congenital malformation
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H02676
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Infantile-onset parkinsonism-dystonia
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Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay.
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Nervous system disease
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H02677
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Progeroid laminopathy
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Laminopathy is a heterogeneous group of inherited disorders resulting from abnormalities of type A lamins. Progeroid laminopathy is a group of the laminopathies that mimics clinical and molecular features ...
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Congenital malformation
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H02678
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External ophthalmoplegia with rib and vertebral anomalies
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External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. It has been reported that loss-of-function ...
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Musculoskeletal disease
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H02679
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Miura-type epiphyseal chondrodysplasia
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Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral ...
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Congenital malformation
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H02680
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Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
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Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is characterized by microcephaly, profound neurodevelopmental impairment, exaggerated ...
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Congenital malformation
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H02681
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Short stature with nonspecific skeletal abnormalities
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Short stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous ...
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Congenital malformation
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H02682
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Nizon-Isidor syndrome
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Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by intellectual disability and developmental delay, including speech impairment. It has been reported that mutations in MED12L ...
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Mental and behavioural disorder
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H02683
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Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
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Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is a novel autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin ...
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Congenital malformation
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H02684
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Mitochondrial progressive myopathy with congenital cataract and developmental delay
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Mitochondrial progressive myopathy with congenital cataract and developmental delay (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital ...
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Nervous system disease
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H02685
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Developmental delay with neuropsychiatric disorders
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Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ...
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Congenital malformation
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H02686
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Developmental delay with dysmorphic facies and dental anomalies
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Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development ...
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Congenital malformation
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H02687
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Congenital deafness and adult-onset progressive leukoencephalopathy
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Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is a severe neurological and neurosensory disease caused by mutations in KARS. Patients have a combination of early-onset deafness ...
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Nervous system disease
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