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Entry Name Description Category Pathway Gene
H01862 Hypoparathyroidism ... fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. The most common cause of hypoparathyroidism is iatrogenic in the setting of anterior neck surgery ... Endocrine and metabolic disease (FIH1) PTH [HSA:5741] [KO:K05261]
(FIH2) GCM2 [HSA:9247] [KO:K21598]
H01875 Infantile hepatic hemangioma Infantile hepatic hemangioma (IHH), although rare, is the most common benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree ... Neoplasm
H01906 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis ... restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract Congenital malformation FAM111B [HSA:374393] [KO:K24275]
H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
CLOVE syndrome 		... become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA. Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H01918 Familial autosomal recessive hypercholesterolemia ... and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH ... Inherited metabolic disorder LDLRAP1 [HSA:26119] [KO:K12474]
H01923 Microcephaly, short stature, and impaired glucose metabolism ... gene TRMT10A has been identified. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. It has also been reported that mutation ... Congenital malformation (MSSGM1) TRMT10A [HSA:93587] [KO:K15445]
(MSSGM2) PPP1R15B [HSA:84919] [KO:K17558]
H01924 Sydenham chorea
Chorea minor 		... disorder following streptococcal infection. Sydenham chorea occurs in approximately 10% of acute rheumatic fever and is one of its major manifestations. The disease may last for weeks or months, with a high ... Immune system disease; Nervous system disease
H01979 Overhydrated hereditary stomatocytosis
Hereditary xerocytosis 		... erythrocytes, hemolysis, and stomatocyte formation. The OHST phenotype is also associated with a dramatic decrease or the absence of the 32-kDa membrane raft protein stomatin. OHST diagnosis is based on ... Hematologic disease RHAG [HSA:6005] [KO:K06580]
H01985 Desmoplastic small round cell tumor ... Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R). Somatic MET and PIK3CA mutations have also been identified. Cancer EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234]
MET (mutation) [HSA:4233] [KO:K05099]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
H02000 Dihydrolipoamide dehydrogenase deficiency
E3 deficiency
Maple syrup urine disease type III 		... dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype. Inherited metabolic disorder DLD [HSA:1738] [KO:K00382]
H02006 Alpha-ketoglutarate dehydrogenase complex deficiency ... with neonatal onset. KGDHC is mitochondrial enzyme complex, and functions in the TCA cycle. This enzymatic complex is made up of three subunits, encoded by OGDH, DLST, and DLD, respectively. The E3 subunit ... Inherited metabolic disorder, Mitochondrial disease OGDH [HSA:4967] [KO:K00164]
DLD [HSA:1738] [KO:K00382]
H02010 Galactose epimerase deficiency
Galactosemia III 		... cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed "generalized type" Inherited metabolic disorder GALE [HSA:2582] [KO:K01784]
H02013 Glycerol kinase deficiency ... kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation. Inherited metabolic disorder GK [HSA:2710] [KO:K00864]
H02028 Filariasis Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity. Parasitic infectious disease
H02029 Mycobacterium avium complex (MAC) pulmonary disease ... avium, M. intracellulare, and eight other species, including M. chimaera. MAC pulmonary disease has been described with two types of clinical manifestations: fibrocavitary and nodular bronchiectatic. Bacterial infectious disease
H02032 Entomophthoramycosis ... Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called ... Fungal infectious disease
H02033 Mucormycosis ... Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection called ... Fungal infectious disease
H02057 Rotor syndrome ... recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies ... Inherited metabolic disorder SLCO1B1 [HSA:10599] [KO:K05043]
SLCO1B3 [HSA:28234] [KO:K05043]
H02076 Bacteroides infection ... intra-abdominal sepsis is the most common infection caused by Bacteroides. Bacteroides bacteremia generally is characterized by thrombophlebitis, metastatic infection, hyperbilirubinemia, and high mortality rate. Bacterial infectious disease
H02124 Interstitial lung and liver disease
Hereditary pulmonary alveolar proteinosis with hepatic involvement 		Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood ... Respiratory system disease (ILLD) MARS [HSA:4141] [KO:K01874]
H02168 Hypotrichosis-lymphedema-telangiectasia syndrome ... syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic vessels. SOX18 mutations are associated with both recessive and dominant HLTS. Congenital malformation SOX18 [HSA:54345] [KO:K09270]
H02169 Hennekam lymphangiectasia-lymphedema syndrome ... disabilities. Mutations in CCBE1, an extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations ... Congenital malformation (HKLLS1) CCBE1 [HSA:147372] [KO:K19638]
(HKLLS2) FAT4 [HSA:79633] [KO:K16669]
(HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619]
H02181 Idiopathic hyperCKemia
Elevated serum creatine phosphokinase 		... also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy ... Inherited metabolic disorder CAV3 [HSA:859] [KO:K12959]
H02183 Parastremmatic dwarfism
Parastremmatic dysplasia 		Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees ... Congenital malformation TRPV4 [HSA:59341] [KO:K04973]
H02192 Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ... Digestive system disease (BRIC1) ATP8B1 [HSA:5205] [KO:K01530]
(BRIC2) ABCB11 [HSA:8647] [KO:K05664]
H02193 Intrahepatic cholestasis of pregnancy
Obstetric cholestasis 		Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes ... Digestive system disease (ICP1) ATP8B1 [HSA:5205] [KO:K01530]
(ICP3) ABCB4 [HSA:5244] [KO:K05659]
H02194 North American Indian childhood cirrhosis North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal ... Digestive system disease CIRH1A [HSA:84916] [KO:K14548]
H02198 Pancreatic agenesis and congenital heart disease
Pancreatic hypoplasia diabetes heart disease
Yorifuji-Okuno syndrome 		Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have ... Congenital malformation GATA6 [HSA:2627] [KO:K17897]
H02237 AMP deaminase deficiency ... in AMP deaminase gene (AMPD1) have been identified. Although a point mutation on the human erythrocyte AMPD3 has also been identified, erythrocyte AMP deaminase deficiency was clinically asymptomatic. Inherited metabolic disorder AMPD1 [HSA:270] [KO:K01490]
AMPD3 [HSA:272] [KO:K01490]
H02256 Factor VII deficiency
Hypoproconvertinemia 		... life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown. Hematologic disease F7 [HSA:2155] [KO:K01320]
H02297 CLAPO syndrome ... syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO ... Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02302 Hepatoblastoma ... children, usually diagnosed during the first 3 years of life. These tumors are thought to arise from hepatic progenitors or hepatoblasts. The most frequent genetic aberrations (70-90%) in hepatoblastoma occur ... Cancer CTNNB1 (mutation) [HSA:1499] [KO:K02105]
APC (mutation) [HSA:324] [KO:K02085]
AXIN2 (mutation) [HSA:8313] [KO:K04385]
H02329 Hepatic lipase deficiency Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations ... Inherited metabolic disorder LIPC [HSA:3990] [KO:K22283]
H02330 Pancreatic lipase deficiency Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal ... Inherited metabolic disorder PNLIP [HSA:5406] [KO:K14073]
H02350 Dyschromatosis universalis hereditaria ... universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early in life. At least ... Skin disease (DUH1) SASH1 [HSA:23328] [KO:K23705]
(DUH3) ABCB6 [HSA:10058] [KO:K05661]
H02385 Eumycetoma ... most common causative agents. The primary niche of these microorganisms is suggested to be the soil. The infection is thought to start subcutaneously after traumatic inoculation of these microorganisms. Fungal infectious disease
H02391 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual ... Congenital malformation (IMNEPD1) PTRH2 [HSA:51651] [KO:K04794]
(IMNEPD2) YARS1 [HSA:8565] [KO:K01866]
H02400 Rhinosporidiosis ... granulomatous infection caused by Rhinosporidium seeberi, a protist belonging to the mesomycetozoea family of aquatic parasites, which primarily affects the mucous membranes of the nose and eye. Disseminated disease ... Parasitic infectious disease
H02410 Myelodysplastic/myeloproliferative neoplasms ... atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic ... Cancer DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
H02440 Fleck retina, familial benign ... recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions ... Nervous system disease PLA2G5 [HSA:5322] [KO:K01047]
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