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Entry	Name	Description	Category	Gene
H01713	Diffuse panbronchiolitis	Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and ...	Respiratory system disease
H01718	Kawasaki disease Mucocutaneous lymph node syndrome	... or three of these findings. The standard treatment of acute KD is intravenous immunoglobulin (IVIG) infusion and aspirin. However, 10-20% of patients show resistance to IVIG therapy and present higher risk ...	Immune system disease
H01721	Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome	... (mainly immunoglobulin G-1) resulting in progressive crescentic glomerulonephritis and, frequently, diffuse pulmonary alveolar hemorrhage. Clinically, GS is characterized by pulmonary hemorrhage and renal ...	Immune system disease
H01735	Lymphangiomatosis	... presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue presentations known as Gorham disease. The disease ...	Neoplasm
H01807	Hereditary diffuse leukoencephalopathy with spheroids	Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, ...	Neurodegenerative disease	(HDLS1) CSF1R [HSA:1436] [KO:K05090] (HDLS2) AARS1 [HSA:16] [KO:K01872]
H01841	Acute encephalopathy with biphasic seizures and late reduced diffusion	Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection ...	Nervous system disease
H01847	Thrombocytopenia-absent radius syndrome TAR syndrome	... variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization of upper ...	Congenital malformation	RBM8A [HSA:9939] [KO:K12876]
H01851	Congenital scoliosis associated with rib anomalies	... segmentation. Patients with congenital scoliosis frequently have other associated anomalies. Sometimes rib fusion or absence can be observed along with the spinal anomalies since ribs are formed in close association ...	Congenital malformation
H01854	Metacarpal 4-5 fusion	Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ...	Congenital malformation	FGF16 [HSA:8823] [KO:K04358]
H01875	Infantile hepatic hemangioma	... benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree of unaffected liver parenchyma. Most lesions are clinically silent and ...	Neoplasm
H01908	Carey-Fineman-Ziter syndrome	... mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.	Congenital malformation	(CFZS1) MYMK [HSA:389827] [KO:K24577] (CFZS2) MYMX [HSA:101929726] [KO:K24578]
H01990	Muenke syndrome Muenke craniosynostosis	... syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.	Congenital malformation	FGFR3 [HSA:2261] [KO:K05094]
H02118	Agnathia-otocephaly complex Otocephaly	... by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly ...	Congenital malformation	PRRX1 [HSA:5396] [KO:K09329]
H02160	Craniosynostoses	Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.	Congenital malformation	(CRS1) TWIST1 [HSA:7291] [KO:K09069] (CRS2) MSX2 [HSA:4488] [KO:K09341] (CRS3) TCF12 [HSA:6938] [KO:K15603] (CRS4) ERF [HSA:2077] [KO:K09434] (CRS5) ALX4 [HSA:60529] [KO:K09451] (CRS6) ZIC1 [HSA:7545] [KO:K09224] (CRS7) SMAD6 [HSA:4091] [KO:K04677]
H02226	Cardiospondylocarpofacial syndrome Forney syndrome	... is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia ...	Congenital malformation	MAP3K7 [HSA:6885] [KO:K04427]
H02254	Craniosynostosis and dental anomalies	... 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.	Congenital malformation	IL11RA [HSA:3590] [KO:K05056]
H02264	Palmoplantar keratoderma, Nagashima type	Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces ...	Congenital malformation	SERPINB7 [HSA:8710] [KO:K13964]
H02266	Palmoplantar keratoderma, Bothnian type	... prevalent in the north of Sweden, along the Gulf of Bothnia. The clinical characteristics of PPKB include diffuse, homogeneous, and even palmoplantar hyperkeratosis with swollen stratum corneum, which distinctively ...	Congenital malformation	AQP5 [HSA:362] [KO:K09867]
H02275	Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses	Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration ...	Inherited metabolic disorder, Lysosomal disease	CLN3 [HSA:1201] [KO:K12389]
H02276	Kufs disease Adult-onset neuronal ceroid lipofuscinosis	Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided ...	Inherited metabolic disorder, Lysosomal disease	CLN6 [HSA:54982] [KO:K12359] DNAJC5 [HSA:80331] [KO:K09525] CTSF [HSA:8722] [KO:K01373]
H02277	Santavuori-Haltia disease Infantile neuronal ceroid lipofuscinosis	Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients ...	Inherited metabolic disorder, Lysosomal disease	PPT1 [HSA:5538] [KO:K01074]
H02278	Jansky-Bielschowsky disease Late infantile neuronal ceroid lipofuscinosis	Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. ...	Inherited metabolic disorder, Lysosomal disease	TPP1 [HSA:1200] [KO:K01279]
H02279	Cathepsin D deficiency	Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon ...	Inherited metabolic disorder, Lysosomal disease	CTSD [HSA:1509] [KO:K01379]
H02328	Sifrim-Hitz-Weiss syndrome	... palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. It has been reported that de novo mutations in CHD4 cause this disease. CHD4 is a core component ...	Congenital malformation	CHD4 [HSA:1108] [KO:K11643]
H02418	Non-Hodgkin lymphoma	... aggressive or indolent. Aggressive NHL is fast-growing disease. It mainly includes mantle cell lymphoma, diffuse large B-cell lymphoma, Burkitt's lymphoma, lymphoblastic lymphoma and peripheral T-cell lymphoma ...	Cancer	RAD54L [HSA:8438] [KO:K10875] RAD54B [HSA:25788] [KO:K10877] CASP10 [HSA:843] [KO:K04400] PRF1 [HSA:5551] [KO:K07818]
H02424	Primary central nervous system lymphoma	... non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; 90%), with the remainder consisting of T-cell lymphomas, poorly characterized ...	Cancer	MYD88 (mutation) [HSA:4615] [KO:K04729] CD79B (mutation) [HSA:974] [KO:K06507] CARD11 (mutation) [HSA:84433] [KO:K07367] TNFAIP3 (mutation) [HSA:7128] [KO:K11859] HLA-DRB5 (deletion) [HSA:3127] [KO:K06752] CDKN2A (deletion) [HSA:1029] [KO:K06621]
H02434	Diffuse large B-cell lymphoma, not otherwise specified	Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of ...	Cancer	EZH2 (mutation) [HSA:2146] [KO:K11430] CREBBP (mutation/deletion) [HSA:1387] [KO:K04498] EP300 (mutation/deletion) [HSA:2033] [KO:K04498] GNA13 (mutation) [HSA:10672] [KO:K04639] GNAI2 (mutation) [HSA:2768] [KO:K04346] TNFRSF14 (mutation) [HSA:8764] [KO:K05152] BCL6 (mutation) [HSA:604] [KO:K15618] MYC (chromosomal translocation) [HSA:4609] [KO:K04377] PTEN (deletion) [HSA:5728] [KO:K01110] BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161] CARD11 (mutation) [HSA:84433] [KO:K07367] CD79A (mutation) [HSA:973] [KO:K06506] CD79B (mutation) [HSA:974] [KO:K06507] TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859] MYD88 (mutation) [HSA:4615] [KO:K04729] CDKN2A (deletion) [HSA:1029] [KO:K06621] CDKN2B (deletion) [HSA:1030] [KO:K04685] PRDM1 (mutation/deletion) [HSA:639] [KO:K24501] MLL2 (mutation) [HSA:8085] [KO:K09187] MLL3 (mutation) [HSA:58508] [KO:K09188] B2M (mutation/deletion) [HSA:567] [KO:K08055] CD58 (mutation/deletion) [HSA:965] [KO:K06492] TP53 (mutation) [HSA:7157] [KO:K04451] MEF2B (mutation) [HSA:100271849] [KO:K09261] FOXO1 (mutation) [HSA:2308] [KO:K07201]
H02440	Fleck retina, familial benign	... appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal ...	Nervous system disease	PLA2G5 [HSA:5322] [KO:K01047]
H02542	Acute promyelocytic leukemia	... characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor alpha (RARA). The majority ...	Cancer	PML-RARA (translocation) [HSA:5371 5914] [KO:K10054 K08527] PLZF-RARA (translocation) [HSA:7704] [KO:K10055] NUMA1-RARA (translocation) [HSA:4926] [KO:K16808]
H02581	Juberg-Hayward syndrome	... microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by ...	Congenital malformation	ESCO2 [HSA:157570] [KO:K11268]
H02655	Retinal dystrophy and microvillus inclusion disease	... (STX3) cause this syndrome. Syntaxin genes code for N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that catalyze the fusion between vesicles and their target membranes.	Congenital malformation	STX3 [HSA:6809] [KO:K08486]
H02704	Mitochondrial myopathy and ataxia	... myopathy and cerebellar ataxia. It has been reported that mutations in MSTO1 cause this disease. MSTO1 is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion.	Nervous system disease	MSTO1 [HSA:55154] [KO:K27320]
H02717	Contractures, pterygia, and spondylocarpotarsal fusion syndrome	Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or ...	Congenital malformation	MYH3 [HSA:4621] [KO:K24220]
H02766	Radiohumeral fusions with other skeletal and craniofacial anomalies	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations ...	Congenital malformation	CYP26B1 [HSA:56603] [KO:K12664]

81 to 114 of 114 Prev 1 2 3