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Entry	Name	Description	Category	Gene
H01030	Congenital arthrogryposis with anterior horn cell disease	... formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is ...	Congenital malformation	GLE1 [HSA:2733] [KO:K18723]
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
H01044	Dracunculiasis Guinea worm disease	... Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking water. It is transmitted by contaminated drinking water containing water fleas that are infected ...	Parasitic infectious disease
H01048	Liver fluke disease Fascioliasis	... stage of the parasite either through consumption of uncooked or unwashed aquatic plants, or through drinking contaminated water. The presence of F. hepatica flukes in humans was first documented in 1760.	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
H01054	Pediculosis	... infestation by Pediculus humanus capitis (head louse) and Pediculus humanus corporis (body louse), sucking lice belonging to the family Pediculidae. Head louse is transmitted by close contact or by fomites ...	Parasitic 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	... parts of Central and South America. The nematode, Mansonella perstans, is transmitted by tiny blood-sucking flies (biting midges). Infections are usually asymptomatic with no distinct and specific clinical ...	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 affects ...	Bacterial infectious disease
H01073	Shewanella infection	... 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
H01096	Pyruvate kinase deficiency	Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ...	Inherited metabolic disorder	PKLR [HSA:5313] [KO:K12406]
H01105	Cranio-lenticulo-sutural dysplasia Boyadjiev-Jabs syndrome	... characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.	Congenital malformation	SEC23A [HSA:10484] [KO:K14006]
H01108	CD36 deficiency Platelet glycoprotein IV deficiency Bleeding disorder platelet-type 10 (BDPLT10)	... monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.	Inherited metabolic disorder	CD36 [HSA:948] [KO:K06259]
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]
H01116	Choroideremia Tapetochoroidal dystrophy	... by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.	Nervous system disease	CHM [HSA:1121] [KO:K23460]
H01119	Prolidase deficiency	... 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]
H01125	Hereditary pyropoikilocytosis	... inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP ...	Hematologic disease	SPTA1 [HSA:6708] [KO:K27408]
H01128	Reticular dysgenesis	... birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2).	Immune system disease	AK2 [HSA:204] [KO:K00939]
H01132	Aplastic anemia	... hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. ...	Hematologic disease	TERC [HSA:7012] [KO:K22183] TERT [HSA:7015] [KO:K11126] IFNG [HSA:3458] [KO:K04687] PRF1 [HSA:5551] [KO:K07818] SBDS [HSA:51119] [KO:K14574] NBN [HSA:4683] [KO:K10867]
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]
H01136	Carboxypeptidase N deficiency	Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ...	Immune system disease	CPN1 [HSA:1369] [KO:K01292]
H01154	Wolff-Parkinson-White (WPW) syndrome Preexcitation syndrome	Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading ...	Cardiovascular disease	PRKAG2 [HSA:51422] [KO:K07200]
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]
H01172	Infantile-onset ascending hereditary spastic paralysis	... be distinguished from those two disorders by the association of an infantile onset, at the age of walking achievement, with an ascending progression during childhood but a long survival during adulthood	Nervous system disease	ALS2 [HSA:57679] [KO:K04575]
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]
H01182	Biotinidase deficiency BTD deficiency Late-onset multiple carboxylase deficiency	... is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.	Inherited metabolic disorder	BTD [HSA:686] [KO:K01435]
H01187	Tietz syndrome Albinism-deafness syndrome	Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene ...	Skin disease	MITF [HSA:4286] [KO:K09455]
H01208	Globozoospermia Round-headed spermatozoa	... associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.	Reproductive system disease	(SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807]
H01212	Familial encephalopathy with neuroserpin inclusion bodies	... characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits.	Neurodegenerative disease	SERPINI1 [HSA:5274] [KO:K23412]
H01213	Gallbladder disease	... Cholecystitis and cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine ...	Digestive system disease	(GBD1) ABCB4 [HSA:5244] [KO:K05659] (GBD4) ABCG8 [HSA:64241] [KO:K05684]
H01217	Primary localized cutaneous amyloidosis	Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ...	Skin disease	(PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732]
H01218	P14 deficiency	... T-cell deficiency. This protein is an adaptor molecule orchestrating the subcellular anatomy of MAP kinase signaling, and is crucial for the function of neutrophils, B cells, cytotoxic T cells and melanocytes	Primary immunodeficiency	MAPBPIP [HSA:28956] [KO:K20398]
H01258	Generalized epilepsy and paroxysmal dyskinesia	Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling ...	Nervous system disease	KCNMA1 [HSA:3778] [KO:K04936]

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