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Entry Name Description Category Pathway
H00563 Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal ... Nervous system disease; Musculoskeletal disease
H00564 Primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... Respiratory system disease
H00565 Sarcoglycanopathies Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated ... Nervous system disease; Musculoskeletal disease
H00566 Distal myopathy with anterior tibial onset Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness. Nervous system disease; Musculoskeletal disease
H00567 Limb-girdle muscular dystrophy 1C
Limb-girdle muscular dystrophy, caveolin myopathy 		Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies characterized by a progressive weakness of the pelvic and shoulder girdle musculature. It has been ... Nervous system disease; Musculoskeletal disease
H00568 Myotonic dystrophy Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 ... Nervous system disease; Musculoskeletal disease
H00569 Aarskog-Scott syndrome
Faciogenital dysplasia 		Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in ... Congenital malformation
H00570 Kabuki syndrome Kabuki syndrome, or Kabuki make-up syndrome (KABUK), is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures ... Congenital malformation
H00571 Johanson-Blizzard syndrome Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen ... Congenital malformation
H00572 Roberts-SC phocomelia syndrome Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia ... Congenital malformation
H00573 Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ... Congenital malformation
H00574 Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial ... Congenital malformation
H00575 Renal tubular dysgenesis Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading ... Congenital malformation
H00576 Pierson syndrome Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal ... Urinary system disease
H00577 Symptomatic generalized epilepsies Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... Nervous system disease
H00578 Epstein syndrome Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... Cardiovascular disease
H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include ... Congenital malformation
H00580 Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive ... Congenital malformation
H00581 Alport syndrome Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV ... Congenital malformation
H00582 Benign familial hematuria
Thin basement membrane nephropathy 		Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... Urinary system disease
H00583 Opitz-GBBB syndrome Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB ... Congenital malformation
H00584 Epidermolysis bullosa simplex Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister ... Congenital malformation
H00585 Epidermolysis bullosa, hemidesmosomal Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome ... Congenital malformation
H00586 Epidermolysis bullosa, junctional Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by ... Congenital malformation
H00587 Epidermolysis bullosa, dystrophica Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation ... Congenital malformation
H00588 Kindler syndrome Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity. Skin disease
H00589 Familial exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of ... Nervous system disease
H00590 Congenital muscular dystrophies (CMD/MDC) Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system ... Nervous system disease; Musculoskeletal disease
H00591 Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... Nervous system disease; Musculoskeletal disease
H00592 Calpainopathy
Limb-girdle muscular dystrophy 2A 		Limb-girdle muscular dystrophy 2A (LGMDR1), also known as calpainopathy, is caused by autosomal recessive mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. ... Nervous system disease; Musculoskeletal disease
H00593 Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... Nervous system disease; Musculoskeletal disease
H00594 Distal myopathy Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... Nervous system disease; Musculoskeletal disease
H00595 Myofibrillar myopathies Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can ... Nervous system disease; Musculoskeletal disease
H00596 Nonaka myopathy (NM)
Nonaka distal myopathy
Hereditary inclusion body myopathy (HIBM) 		Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine ... Nervous system disease; Musculoskeletal disease
H00597 Snyder-Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder ... Congenital malformation
H00598 46,XX testicular disorder of sex development 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female ... Reproductive system disease
H00599 Ovarian dysgenesis
46,XX gonadal dysgenesis 		Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... Reproductive system disease
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome 		Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It ... Reproductive system disease
H00601 Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled ... Inherited metabolic disorder
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I 		Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and ... Endocrine and metabolic disease
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