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Entry Name Description Category Pathway Gene
H01022 Diseases of the tricarboxylic acid cycle ... disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency [DS:H02005] affects mitochondrial complex ... Inherited metabolic disorder (FMRD) FH [HSA:2271] [KO:K01679]
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(OGDHD) OGDH [HSA:4967] [KO:K00164]
H01062 Histoplasmosis Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum that occurs in temperate and tropical climates. It is one of the most frequent invasive fungal infections in immunocompromised patients ... Fungal infectious disease
H01105 Cranio-lenticulo-sutural dysplasia
Boyadjiev-Jabs syndrome 		... rare autosomal recessive 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 ... Congenital malformation SEC23A [HSA:10484] [KO:K14006]
H01139 Human granulocytic anaplasmosis Human granulocytic anaplasmosis (HGA), previously known as human granulocytic ehrlichiosis (HGE), is a tick-borne infection caused by Anaplasma phagocytophilum. It results in symptoms ranging from mild ... Bacterial infectious disease
H01189 Transaldolase deficiency ... hydrops to slowly progressive liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart ... Inherited metabolic disorder TALDO1 [HSA:6888] [KO:K00616]
H01220 Congenital cataracts, facial dysmorphism, and neuropathy Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically ... Congenital malformation CTDP1 [HSA:9150] [KO:K15732]
H01223 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
Chromosome 5q14.3 deletion syndrome 		... hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency ... Chromosomal abnormality MEF2C [HSA:4208] [KO:K04454]
H01225 D-2-hydroxyglutaric aciduria ... neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene ... Inherited metabolic disorder (D2HGA1) D2HGDH [HSA:728294] [KO:K18204]
(D2HGA2) IDH2 [HSA:3418] [KO:K00031]
H01232 Syndromic multisystem autoimmune disease ... autoimmune disease. For example, ADMFD is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver and gut. Immune system disease (ADMFD) ITCH [HSA:83737] [KO:K05632]
(AILJK) COPA [HSA:1314] [KO:K05236]
(AIS6) SIAE [HSA:54414] [KO:K05970]
H01238 Phelan-McDermid syndrome
Chromosome 22q13.3 deletion syndrome 		... expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 ... Chromosomal abnormality SHANK3 [HSA:85358] [KO:K15009]
H01292 Nance-Horan syndrome ... an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients ... Congenital malformation NHS [HSA:4810] [KO:K24144]
H01308 Macrocephaly macrosomia facial dysmorphism syndrome Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome. Congenital malformation RNF135 [HSA:84282] [KO:K16272]
H01346 Bloom syndrome
MGRISCE1 		... disease is characterized by severe growth deficiency, an erythematous and photosensitive facial rash, dysmorphic features such as microcephaly and malar hypoplasia, immunodeficiency and a high predisposition ... Congenital malformation BLM [HSA:641] [KO:K10901]
H01370 SHORT syndrome ... hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome. Congenital malformation PIK3R1 [HSA:5295] [KO:K02649]
H01390 Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE Syndrome 		... disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations ... Inherited metabolic disorder, Mitochondrial disease TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
LIG3 [HSA:3980] [KO:K10776]
H01440 Acute necrotizing ulcerative gingivitis
Vincent gingivitis
Vincent angina
Trench mouth 		... oral flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting gingivitis, extreme stress, or lack of sleep ... Bacterial infectious disease
H01447 Body dysmorphic disorder Body dysmorphic disorder (BDD) is a psychiatric disorder in which individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized ... Mental and behavioural disorder
H01449 Excoriation disorder
Skin picking disorder 		... dependence, major depressive disorder, anxiety disorders, obsessive compulsive disorder (OCD), and body dysmorphic disorder (BDD). So far, there is no clear neurobiological explanation for the etiology of this ... Mental and behavioural disorder
H01453 Obsessive-Compulsive and Related Disorder ... nonserotonergic agents. OCRD includes OCD, Trichotillomania, Hoarding disorder, Excoriation disorder, and Body dysmorphic disorder. The usual treatments of OCRD are cognitive behavioural therapy (CBT) and selective ... Mental and behavioural disorder
H01488 Hyperphosphatasia with mental retardation syndrome
Mabry syndrome 		... disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic ... Inherited metabolic disorder (HPMRS1) PIGV [HSA:55650] [KO:K07542]
(HPMRS2) PIGO [HSA:84720] [KO:K05288]
(HPMRS3) PGAP2 [HSA:27315] [KO:K23552]
(HPMRS4) PGAP3 [HSA:93210] [KO:K23553]
(HPMRS5) PIGW [HSA:284098] [KO:K05283]
(HPMRS6) PIGY [HSA:84992] [KO:K11001]
H01490 Multiple sclerosis ... They indicate that a combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
H01496 Spondyloocular syndrome ... the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly. Congenital malformation XYLT2 [HSA:64132] [KO:K00771]
H01497 Temtamy preaxial brachydactyly syndrome ... cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies. Congenital malformation CHSY1 [HSA:22856] [KO:K13499]
H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Larsen-like syndrome 		Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations ... Inherited metabolic disorder B3GAT3 [HSA:26229] [KO:K10158]
H01524 DiGeorge syndrome ... characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism ... Primary immunodeficiency TBX1 [HSA:6899] [KO:K10175]
H01556 Meningioma Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend ... Cancer NF2 [HSA:4771] [KO:K16684]
SMARCB1 [HSA:6598] [KO:K11648]
SMARCE1 [HSA:6605] [KO:K11651]
SUFU [HSA:51684] [KO:K06229]
PTEN [HSA:5728] [KO:K01110]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
TRAF7 [HSA:84231] [KO:K10646]
AKT1 [HSA:207] [KO:K04456]
KLF4 [HSA:9314] [KO:K17846]
SMO [HSA:6608] [KO:K06226]
MN1 [HSA:4330] [KO:K22543]
PDGFB [HSA:5155] [KO:K17386]
H01575 Roifman syndrome
Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency 		... postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, and characteristic facial dysmorphism. Recently, whole-genome sequencing of Roifman syndrome patients have demonstrated that Roifman ... Congenital malformation RNU4ATAC [HSA:5190] [KO:K13339]
H01578 Subacute myelo-optico-neuropathy (SMON) Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset ... Neurodegenerative disease
H01579 Congenital symmetric circumferential skin creases
Kunze-Riehm syndrome
Michelin tire baby syndrome 		... subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or ... Congenital malformation (CSCSC1) TUBB [HSA:203068] [KO:K07375]
(CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01608 Cervical dystonia
Spasmodic torticollis 		Cervical dystonia (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which ... Nervous system disease
H01620 Raynaud syndrome ... alterations in activity of the peripheral adrenoceptor have been implicated, specifically an enhanced smooth muscle contraction due to overexpression or hyperactivity of postsynaptic alpha 2 receptors. RS ... Cardiovascular disease
H01625 Buerger disease
Thromboangiitis obliterans 		... affects the small and medium-sized arteries and veins in the upper and lower extremities. Cigarette smoking has been implicated as the main etiology of the disease. Although Buerger's disease has a worldwide ... Immune system disease
H01626 Arteriosclerosis obliterans ... intermittent claudication, or even gangrene and ulceration. The risk factors of ASO include age, male gender, smoking, hypertension, hyperlipidemia, diabetes mellitus, chronic renal failure, and hyperhomocysteinemia ... Cardiovascular disease
H01634 Peptic ulcer ... peptic ulcer are Helicobacter pylori infection and use of nonsteroidal anti-inflammatory drugs (NSAIDs). Smoking increases the risk of ulcer recurrence and slows healing. Most patients are treated successfully ... Digestive system disease
H01640 Uterine leiomyoma
Fibroid 		... of the female genital tract. It is a discrete, round, firm, often multiple uterine tumor composed of smooth muscle and connective tissue. The findings derived from high-throughput sequencing combined with ... Reproductive system disease HMGA2 (rearrangement) [HSA:8091] [KO:K09283]
MED12 (mutation) [HSA:9968] [KO:K15162]
COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237]
Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679]
H01641 Dry eye disease
Keratoconjunctivitis sicca 		... film instability with the potential for damage to the ocular surface. It is accompanied by increased osmolarity of the tear film and subacute inflammation of the ocular surface. Dry eye disease is subdivided ... Nervous system disease
H01648 Pemphigus ... blistering disease of the skin and mucous membranes characterized by circulating autoantibodies that target desmosomal components as well as other epithelial antigens and impair keratinocytes adhesion with subsequent ... Immune system disease; Skin disease
H01650 Pemphigoid ... infiltration is commonly observed in BP. The main autoantigens targeted by BP autoantibodies are hemidesmosomal transmembrane collagen XVII (COL17, also known as BP180/BPAG2) and the intracytoplasmic plakin ... Immune system disease; Skin disease
H01664 Panic disorder ... physical illnesses (e.g. asthma) commonly occur with panic disorder, and certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear. In recent years, ... Mental and behavioural disorder
H01667 Medulloblastoma ... germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels ... Cancer PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
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