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Entry	Name	Description	Category	Gene
H00860	Benign hereditary chorea	... dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal ...	Nervous system disease	TTF1 [HSA:7270] [KO:K15225]
H00866	Trichothiodystrophy	Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three ...	Skin disease	(TTD1) ERCC2 [HSA:2068] [KO:K10844] (TTD2) ERCC3 [HSA:2071] [KO:K10843] (TTD3) GTF2H5 [HSA:404672] [KO:K10845] (TTD4) MPLKIP [HSA:136647] [KO:K24575] (TTD5) RNF113A [HSA:7737] [KO:K13127] (TTD6) GTF2E2 [HSA:2961] [KO:K03137] (TTD7) TARS1 [HSA:6897] [KO:K01868] (TTD8) AARS1 [HSA:16] [KO:K01872] (TTD9) MARS1 [HSA:4141] [KO:K01874]
H00876	Mismatch repair deficiency	... characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors ...	Cancer	(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734] (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735] (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737] (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC7) MLH3 [HSA:27030] [KO:K08739]
H00880	Dyschromatosis symmetrica hereditaria	Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented ...	Skin disease	ADAR [HSA:103] [KO:K12968]
H00882	Cocoon syndrome	... being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential ...	Congenital malformation	CHUK [HSA:1147] [KO:K04467]
H00883	Lipoid proteinosis Urbach-Wiethe disease	... characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature ...	Congenital malformation	ECM1 [HSA:1893] [KO:K23867]
H00884	Familial progressive hyperpigmentation	... hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules in cells of pigmented ...	Skin disease	KITLG [HSA:4254] [KO:K05461]
H00885	Hypomelanosis of Ito Pigmentary mosaicism	Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system ...	Skin disease	chromosomal mosaicism
H00893	Cardiomyopathy, dilated, with woolly hair and keratoderma	... plaque protein. DCWHK is characterized by the presence of woolly or sparse hair from birth, fragile skin with blisters/erosions, with hyperkeratosis and epidermolytic keratoderma developing in early childhood ...	Congenital malformation	DSP [HSA:1832] [KO:K10381]
H00906	Macrocephaly, alopecia, cutis laxa, and scoliosis MACS syndrome	... to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe ...	Congenital malformation	RIN2 [HSA:54453] [KO:K23687]
H00914	Warsaw breakage syndrome	... syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation.	Congenital malformation	DDX11 [HSA:1663] [KO:K11273]
H00915	Tuberous sclerosis complex Bourneville-Pringle disease	... genetic disorder characterized by pervasive benign tumors in most organ systems including the brain, skin, kidney, liver, lung, and heart, which is inherited in an autosomal dominant manner. Patients with ...	Congenital malformation	(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207]
H00921	Revesz syndrome Dyskeratosis congenita, autosomal dominant 5 Exudative retinopathy with bone marrow failure	... retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor ...	Congenital malformation	TINF2 [HSA:26277] [KO:K11112]
H00925	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency HSD10 mitochondrial disease	... deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills.	Inherited metabolic disorder	HSD17B10 [HSA:3028] [KO:K08683]
H00928	Nephropathy with pretibial epidermolysis bullosa and deafness	... pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper ...	Urinary system disease	CD151 [HSA:977] [KO:K06537]
H00944	Dowling-Degos disease	Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at ...	Skin disease	(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667]
H00949	Focal dermal hypoplasia Goltz-Gorlin syndrome	... rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal, ocular and dental abnormalities. Skeletal dysplasia consisting of ...	Congenital malformation	PORCN [HSA:64840] [KO:K00181]
H00986	Multiple pterygium syndrome	... types. The clinical features of MPS are congenital joint contractures (arthrogryposis) and multiple skin webbing (pterygia). Patients may have other developmental defects such as micrognathia, ptosis, ...	Congenital malformation	(LMPS, EVMPS) CHRNG [HSA:1146] [KO:K04818] (LMPS) CHRNA1 [HSA:1134] [KO:K04803] (LMPS) CHRND [HSA:1144] [KO:K04816]
H01006	Hereditary angioedema	... angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal ...	Cardiovascular disease	(HAE1/2) SERPING1 [HSA:710] [KO:K04001] (HAE3) F12 [HSA:2161] [KO:K01328] (HAE4) PLG [HSA:5340] [KO:K01315] (HAE5) ANGPT1 [HSA:284] [KO:K05465] (HAE6) KNG1 [HSA:3827] [KO:K03898] (HAE7) MYOF [HSA:26509] [KO:K22125] (HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01008	C syndrome Opitz trigonocephaly syndrome	... trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in ...	Congenital malformation	CD96 [HSA:10225] [KO:K06517]
H01022	Diseases of the tricarboxylic acid cycle	... highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised ...	Inherited metabolic disorder	(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164]
H01028	Argininosuccinic aciduria Argininosuccinate lyase deficiency	... argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, ...	Inherited metabolic disorder	ASL [HSA:435] [KO:K01755]
H01042	Buruli ulcer	... BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically painless necrotizing skin lesions.	Bacterial infectious disease
H01043	Onchocerciasis River blindness Robles disease	... countries, the Arabian peninsula, and small parts of Latin America. Persons with onchocerciasis may develop skin diseases such as pruritus, lichenification, and depigmentation, as well as ocular manifestations ...	Parasitic infectious disease
H01052	Molluscum contagiosum	Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites ...	Viral infectious disease
H01057	Gnathostomiasis	... fish. The clinical presentation is characterized by localized, intermittent, migratory swellings of the skin and subcutaneous tissues, often in association with localized pain, pruritus, and erythema.	Parasitic infectious disease
H01061	Mansonelliasis	... (biting midges). Infections are usually asymptomatic with no distinct and specific clinical picture but may cause transient upper abdominal pain, subcutaneous swellings, eosinophilia, and skin rashes.	Parasitic infectious disease
H01067	Proteus mirabilis infection	... Enterobacteriaceae, that inhabits the environment. It causes a number of infections including those of the skin, respiratory tract, wounds, and urinary tract. Pyelonephritis caused by the bacterium primarily ...	Bacterial infectious disease
H01073	Shewanella infection	... humans. Shewanella infection is associated with a wide clinical spectrum including bacteremia/septicemia, skin and soft-tissue infection, biliary tract infection, peritonitis, and empyema, and soft-tissue infection ...	Bacterial infectious disease
H01092	Hookworm disease	... infection most commonly caused by Ancylostoma duodenale and Necator americanus, which are transmitted via skin contact with fecally contaminated soil. The major clinical features are anemia and malnutrition ...	Parasitic infectious disease
H01109	Chronic mucocutaneous candidiasis Familial candidiasis (CANDF)	... a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal ...	Immune system disease	(CANDF2) CARD9 [HSA:64170] [KO:K12794] (CANDF4) CLEC7A [HSA:64581] [KO:K10074] (CANDF5) IL17RA [HSA:23765] [KO:K05164] (CANDF6) IL17F [HSA:112744] [KO:K05494] (CANDF7) STAT1 [HSA:6772] [KO:K11220] (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124] (CANDF9) IL17RC [HSA:84818] [KO:K05166]
H01119	Prolidase deficiency	... and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss ...	Inherited metabolic disorder	PEPD [HSA:5184] [KO:K14213]
H01133	Reynolds syndrome	... PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells ...	Immune system disease	LBR [HSA:3930] [KO:K19532]
H01158	Alopecia universalis	Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are ...	Skin disease	HR [HSA:55806] [KO:K00478]
H01173	Stiff skin syndrome	Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant ...	Skin disease	FBN1 [HSA:2200] [KO:K06825]
H01175	Staphylococcal infection	Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus ...	Bacterial infectious disease
H01176	Uncomplicated urinary tract infection	Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen ...	Bacterial infectious disease
H01178	Myiasis	Myiasis is a parasitic infestation of vital tissue of the skin and mucous membranes by dipterous larvae. Human myiasis is a rare clinic condition but more prevalent in humid tropical and subtropical regions ...	Parasitic infectious disease
H01179	Tungiasis Chigoe flea	... tropical ectoparasitosis caused by the permanent penetration of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring in many Latin American ...	Parasitic infectious disease
H01181	T-cell immunodeficiency congenital alopecia and nail dystrophy	... mutation in FOXN1 gene encoding a transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility ...	Immune system disease	FOXN1 [HSA:8456] [KO:K09407]

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