| Entry |
Name |
Description |
Category |
Pathway |
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H02528
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Hao-Fountain syndrome
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Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. HAFOUS is caused by mutations in USP7 that encodes deubiquitinating enzyme
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Congenital malformation
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H02529
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Bone marrow failure syndrome
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Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.
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Hematologic disease
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H02530
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Hereditary prostate cancer
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Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree ...
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Cancer
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H02531
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Familial breast-ovarian cancer
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Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset ...
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Cancer
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H02532
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Proteasome-associated autoinflammatory syndrome
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Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory ...
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Immune system disease
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H02533
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Kaufman oculocerebrofacial syndrome
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Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised ...
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Congenital malformation
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H02534
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Y-linked spermatogenic failure
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The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function.
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Reproductive system disease
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H02535
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Neurodevelopmental disorder with dysmorphic facies
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Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ...
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Congenital malformation
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H02536
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Infection-induced acute encephalopathy
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Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ ...
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Nervous system disease; Infectious disease
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H02537
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Autoinflammation, immune dysregulation, and eosinophilia
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Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway ...
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Immune system disease
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H02538
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Paraganglioma
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Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly ...
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Neoplasm
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H02539
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Intervertebral disc disease
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Intervertebral disc degeneration (IDD) is a common musculoskeletal disease associated with genetic factors.
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Musculoskeletal disease
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H02540
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Infantile-onset multisystem autoimmune disease
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Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.
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Immune system disease
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H02541
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Juvenile myelomonocytic leukemia
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Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies ...
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Cancer
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H02542
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Acute promyelocytic leukemia
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Acute promyelocytic leukemia (APL) is the most malignant form of acute myeloid leukemia (AML) with a severe bleeding tendency and a fatal course of only weeks. Morphologically, it is identified as AML-M3 ...
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Cancer
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H02543
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Acromesomelic dysplasia
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Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations ...
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Congenital malformation
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H02544
|
Riboflavin deficiency
|
Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations ...
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Endocrine and metabolic disease
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H02545
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Hypertryptophanemia
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Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It ...
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Inherited metabolic disorder
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H02546
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Hypervalinemia and hyperleucine-isoleucinemia
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Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in ...
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Inherited metabolic disorder
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H02547
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BRENS syndrome
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Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene ...
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Congenital malformation
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H02548
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CIMDAG syndrome
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CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation ...
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Congenital malformation
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H02549
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Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
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Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural ...
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Congenital malformation
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H02550
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Birk-Landau-Perez syndrome
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Birk-Landau-Perez syndrome (BILAPES) is a novel autosomal recessive cerebro-renal syndrome characterized by early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested ...
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Inherited metabolic disorder
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H02551
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Skeletal dysplasia with joint laxity and advanced bone age
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Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis ...
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Congenital malformation
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H02552
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Ataxia, intention tremor, and hypotonia syndrome
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Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is ...
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Nervous system disease
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H02553
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Visceral myopathy
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Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe ...
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Congenital malformation
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H02554
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Omenn syndrome
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Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations ...
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Immune system disease
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H02555
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Muckle-Wells syndrome
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Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated ...
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Immune system disease
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H02556
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CINCA syndrome
Chronic infantile neurologic cutaneous and articular syndrome
|
Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized ...
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Immune system disease
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H02557
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Dopa-responsive dystonia
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Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa ...
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Nervous system disease
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H02558
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Craniotubular dysplasia, Ikegawa type
|
Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 ...
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Congenital malformation
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H02559
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Microvascular complications of diabetes
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Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal ...
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Endocrine and metabolic disease
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H02560
|
White-Kernohan syndrome
|
White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease ...
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Congenital malformation
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H02561
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Familial autoinflammatory syndrome with or without immunodeficiency
|
Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is an early onset autoimmune disease caused by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific ...
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Immune system disease
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H02562
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Yoon-Bellen neurodevelopmental syndrome
|
Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes ...
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Inherited metabolic disorder, Mitochondrial disease
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H02563
|
Neural tube defects
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Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving ...
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Congenital malformation
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H02564
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Generalized epilepsy with febrile seizures plus
|
Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ...
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Nervous system disease
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H02565
|
Hereditary nonpolyposis colorectal cancer
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Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the ...
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Cancer
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H02566
|
Muir-Torre syndrome
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Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch ...
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Cancer
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H02567
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Sorbitol dehydrogenase deficiency with peripheral neuropathy
|
Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic ...
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Inherited metabolic disorder
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