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Entry	Name	Description	Category	Gene
H01923	Microcephaly, short stature, and impaired glucose metabolism	Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation ...	Congenital malformation	(MSSGM1) TRMT10A [HSA:93587] [KO:K15445] (MSSGM2) PPP1R15B [HSA:84919] [KO:K17558]
H01965	Miyoshi muscular dystrophy Miyoshi myopathy	... atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms is in young adulthood and often begins with the inability to toe walk. Miyoshi muscular dystrophy 1 (MMD1) is ...	Nervous system disease; Musculoskeletal disease	(MMD1) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480]
H02032	Entomophthoramycosis	The class 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 ...	Fungal infectious disease
H02033	Mucormycosis	... the order Mucorales cause an angioinvasive infection called mucormycosis. Infection sites include the lungs, rhinocerebral spaces, sinuses, soft tissue, skin, gastrointestinal tract and bloodstream. Genera ...	Fungal infectious disease
H02050	Prepubertal periodontitis	Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and ...	Digestive system disease	CTSC [HSA:1075] [KO:K01275]
H02061	Estrogen resistance syndrome	... estrogens. A few patients who have mutations in ESR1 gene have been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.	Endocrine and metabolic disease	ESR1 [HSA:2099] [KO:K08550]
H02117	Neu-Laxova syndrome	... restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations ...	Inherited metabolic disorder	PHGDH [HSA:26227] [KO:K00058] PSAT1 [HSA:29968] [KO:K00831]
H02119	Proteus syndrome	... include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts.	Congenital malformation	AKT1 [HSA:207] [KO:K04456]
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]
H02133	Vici syndrome Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum	... is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver, and kidneys. A skeletal myopathy is consistently associated. Recent studies identified ...	Immune system disease	EPG5 [HSA:57724] [KO:K23883]
H02198	Pancreatic agenesis and congenital heart disease Pancreatic hypoplasia diabetes heart disease Yorifuji-Okuno syndrome	... disease. Mutations in GATA6 have been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.	Congenital malformation	GATA6 [HSA:2627] [KO:K17897]
H02280	Complex lethal osteochondrodysplasia Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	... skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome ...	Congenital malformation	TAPT1 [HSA:202018] [KO:K23404]
H02317	SERKAL syndrome	... an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function ...	Reproductive system disease	WNT4 [HSA:54361] [KO:K00408]
H02356	PCWH syndrome Waardenburg-Shah syndrome, neurologic variant	... syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development ...	Nervous system disease	SOX10 [HSA:6663] [KO:K09270]
H02385	Eumycetoma	... of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions. Madurella mycetomatis, Madurella ...	Fungal infectious disease
H02386	Phaeohyphomycosis	Phaeohyphomycosis is an infectious disease caused by many species of dematiaceous fungi. It is associated with a wide range of inflammatory responses. Over 100 species and 60 genera of dematiaceous fungi ...	Fungal infectious disease
H02392	Scedosporiosis Pseudoallescheriosis	... ranging from localized to disseminated infections worldwide. Infectious agents are ubiquitous filamentous fungi present in soil, sewage, and polluted waters. Scedosporium apiospermum is the most common agent ...	Fungal infectious disease
H02393	Talaromycosis Penicilliosis	Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised ...	Fungal infectious disease
H02399	Primary amoebic meningoencephalitis (PAM)	... worldwide in soil and warm freshwater. PAM is a rare but fatal disease usually affecting children and young adults all around the world. This acute infection is developed by the entry of N. fowleri through ...	Parasitic infectious disease
H02421	Solid tumor	... epithelial cells. Neoplastic epithelial cells generate aggressive cancers such as those located in the lung, breast, colon, prostate and ovary. Some cancers of the bladder ureters and kidneys are transitional ...	Cancer
H02425	Erdheim-Chester disease	... the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. Recent studies have described that the etiology of ECD may ...	Cancer	BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] ARAF (mutation) [HSA:369] [KO:K08845] MAP2K2 (mutation) [HSA:5605] [KO:K04369] KRAS (mutation) [HSA:3845] [KO:K07827] NRAS (mutation) [HSA:4893] [KO:K07828]
H02428	Trichosporonosis	Trichosporonosis is a rare mycosis caused by various species in the Trichosporon genus. The first description of clinical isolates of Trichosporon spp. was in 1867. This yeast-like pathogen may cause deep-seated ...	Fungal infectious disease
H02466	Rajab interstitial lung disease with brain calcification	Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases ...	Respiratory system disease	(RILDBC1) FARSB [HSA:10056] [KO:K01890] (RILDBC2) FARSA [HSA:2193] [KO:K01889]
H02500	Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa	Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit ...	Congenital malformation	ITGA3 [HSA:3675] [KO:K06482]
H02603	Congenital mitral valve stenosis	... types: typical, hypoplastic, supramitral ring, and parachute mitral valve. Clinically, the patients present mitral regurgitation, secondary pulmonary hypertension, lung disease and/or cardiac lesions.	Congenital malformation
H02605	Congenital pulmonary venous stenosis	... intimal proliferation leading to obstruction of the large pulmonary veins and of blood flow from the lungs to the left atrium. This results in elevated pulmonary venous pressure and pulmonary edema, pulmonary ...	Congenital malformation
H02661	Subcutaneous panniculitis-like T-cell lymphoma	... panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger patients and associated with hemophagocytic lymphohistiocytosis. Recently, germline mutations in ...	Cancer	HAVCR2 [HSA:84868] [KO:K20414]
H02666	Chilton-Okur-Chung neurodevelopmental syndrome	Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is associated with developmental delay, intellectual disability, autism, hypotonia, and structural brain abnormalities. It has been reported that ...	Congenital malformation	CDC42BPB [HSA:9578] [KO:K16307]
H02695	Fibrosis, neurodegeneration, and cerebral angiomatosis	... symptoms, malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that mutations in NHLRC2 ...	Congenital malformation	NHLRC2 [HSA:374354]
H02745	Neuromuscular oculoauditory syndrome	... nervous system anomalies and seizures. NMOAS can have varied presentations and can be suspected in a young infant with weakness, seizures, blindness and deafness. DHX16 is a member of the spliceosome complex ...	Congenital malformation	DHX16 [HSA:8449] [KO:K12813]

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