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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
epidermolysis bullosa simplex with muscular dystrophy
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limb-girdle muscular dystrophy with epidermolysis ..
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limb-girdle muscular dystrophy with epidermolysis bullosa simplex; epidermolysis bullosa simplex and limb-girdle muscular dystrophy
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An syndrome characterized by early childhood onset.. [+]
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
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split hand-foot malformation
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lobster-claw deformity; split-hand deformity
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A bone development disease characterized by malfor.. [+]
A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
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hypogonadotropic hypogonadism 23 with or without anosmia
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Leydig cell hypoplasia due to luteinizing hormone ..
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Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome; fertile eunuch syndrome
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A hypogonadotropic hypogonadism that has_material_.. [+]
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
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brain small vessel disease 1
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leukoencephalopathy with Axenfeld-Riegar anomaly; ..
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leukoencephalopathy with Axenfeld-Riegar anomaly; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; infantile hemiparesis; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
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A brain small vessel disease that is characterized.. [+]
A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
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carnitine palmitoyltransferase I deficiency
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L-CPT1 deficiency; carnitine palmitoyl transferase..
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L-CPT1 deficiency; carnitine palmitoyl transferase 1A deficiency; CPT I deficiency; CPT1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic CPT deficiency type I; carnitine palmitoyl transferase IA deficiency; hepatic carnitine palmitoyl transferase I deficiency
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A lipid metabolism disorder that is characterized .. [+]
A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.
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cataract 23
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lamellar cataract 23; CTRCT23
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A cataract that has_material_basis_in heterozygous.. [+]
A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.
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autosomal recessive limb-girdle muscular dystrophy type 2A
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LGMD2A; limb-girdle muscular dystrophy due to calp..
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LGMD2A; limb-girdle muscular dystrophy due to calpain deficiency; Leyden-Moebius muscular dystrophy; muscular dystrophy, limb-girdle, type 2A; primary calpainopathy; pelvofemoral muscular dystrophy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
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autosomal recessive limb-girdle muscular dystrophy type 2B
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limb-girdle muscular dystrophy type 3; limb-girdle..
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limb-girdle muscular dystrophy type 3; limb-girdle muscular dystrophy due to dysferlin deficiency; LGMD3; LGMD2B
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
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autosomal recessive limb-girdle muscular dystrophy type 2C
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limb-girdle muscular dystrophy due to gamma-sarcog..
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limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; LGMD2C; autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; gamma-sarcoglycanopathy; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type; Maghrebian myopathy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
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autosomal recessive limb-girdle muscular dystrophy type 2D
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LGMD2D; Alpha-sarcoglycanopathy; Duchenne-like aut..
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LGMD2D; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; muscular dystrophy, limb-girdle, type 2D; DMDA2; primary adhalinopathy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.
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autosomal recessive limb-girdle muscular dystrophy type 2E
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Limb-girdle muscular dystrophy due to beta-sarcogl..
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Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; LGMD2E; Beta-sarcoglycanopathy; muscular dystrophy, limb-girdle, type 2E
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
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autosomal recessive limb-girdle muscular dystrophy type 2F
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limb-girdle muscular dystrophy due to delta-sarcog..
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limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; LGMD2F; delta-sarcoglycanopathy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
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autosomal recessive limb-girdle muscular dystrophy type 2G
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limb-girdle muscular dystrophy due to telethonin d..
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limb-girdle muscular dystrophy due to telethonin deficiency; LGMD2G; muscular dystrophy, limb-girdle, type 2G
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).
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autosomal recessive limb-girdle muscular dystrophy type 2H
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LGMD2H; limb-girdle muscular dystrophy due to TRIM..
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LGMD2H; limb-girdle muscular dystrophy due to TRIM32 deficiency; muscular dystrophy Hutterite type; sarcotubular myopathy
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
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autosomal recessive limb-girdle muscular dystrophy type 2J
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LGMD2J; muscular dystrophy, limb-girdle, type 2J
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).
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autosomal recessive limb-girdle muscular dystrophy type 2L
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LGMD2L; muscular dystrophy, limb-girdle, type 2L
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
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autosomal recessive limb-girdle muscular dystrophy type 2Q
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LGMD2Q; autosomal recessive limb-girdle muscular d..
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LGMD2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; muscular dystrophy, limb-girdle, type 2Q
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.
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autosomal recessive limb-girdle muscular dystrophy type 2S
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LGMD2S; muscular dystrophy, limb-girdle, type 2S
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
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autosomal recessive limb-girdle muscular dystrophy type 2W
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LGMD2W; muscular dystrophy, limb-girdle, type 2W
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.
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autosomal recessive limb-girdle muscular dystrophy type 2Y
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LGMD2Y; autosomal recessive muscular dystrophy due..
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LGMD2Y; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; muscular dystrophy with progressive weakness, distal contractures and rigid spine; autosomal recessive muscular dystrophy due to LAP1B deficiency; muscular dystrophy, limb-girdle, type 2Y
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
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autosomal recessive limb-girdle muscular dystrophy type 2X
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LGMD2X; muscular dystrophy, limb-girdle, type 2X
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
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autosomal recessive limb-girdle muscular dystrophy type 2O
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LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa..
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LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
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autosomal recessive limb-girdle muscular dystrophy type 2P
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LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopa..
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LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.
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autosomal recessive limb-girdle muscular dystrophy type 2T
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LGMD2T; MDDGC14; muscular dystrophy limb-girdle ty..
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LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
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autosomal recessive limb-girdle muscular dystrophy type 2U
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LGMD2U; autosomal recessive limb-girdle muscular d..
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LGMD2U; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
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autosomal recessive limb-girdle muscular dystrophy type 2M
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LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopa..
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LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
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autosomal recessive limb-girdle muscular dystrophy type 2K
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limb-girdle muscular dystrophy-intellectual disabi..
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limb-girdle muscular dystrophy-intellectual disability syndrome; LGMD2K; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
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autosomal recessive limb-girdle muscular dystrophy type 2N
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LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopa..
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LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
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autosomal recessive limb-girdle muscular dystrophy type 2I
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Limb-girdle muscular dystrophy due to FKRP deficie..
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Limb-girdle muscular dystrophy due to FKRP deficiency; LGMD2I; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
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An autosomal recessive limb-girdle muscular dystro.. [+]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
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autosomal dominant limb-girdle muscular dystrophy type 1B
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Limb-girdle muscular dystrophy due to lamin A/C de..
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Limb-girdle muscular dystrophy due to lamin A/C deficiency; LGMD1B; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B
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An autosomal dominant limb-girdle muscular dystrop.. [+]
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA).
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autosomal dominant limb-girdle muscular dystrophy type 1H
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LGMD1H; muscular dystrophy limb-girdle type 1H
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An autosomal dominant limb-girdle muscular dystrop.. [+]
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23.
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autosomal dominant limb-girdle muscular dystrophy type 2
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LGMD1F; muscular dystrophy limb-girdle type 1F; au..
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LGMD1F; muscular dystrophy limb-girdle type 1F; autosomal dominant limb-girdle muscular dystrophy type 1F
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An autosomal dominant limb-girdle muscular dystrop.. [+]
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
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autosomal dominant limb-girdle muscular dystrophy type 1
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LGMD1D; muscular dystrophy limb-girdle type 1E; mu..
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LGMD1D; muscular dystrophy limb-girdle type 1E; muscular dystrophy limb-girdle type 1D; autosomal dominant limb-girdle muscular dystrophy type 1E
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An autosomal dominant limb-girdle muscular dystrop.. [+]
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.
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autosomal dominant limb-girdle muscular dystrophy type 3
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LGMD1G; muscular dystrophy limb-girdle type 1G; au..
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LGMD1G; muscular dystrophy limb-girdle type 1G; autosomal dominant limb-girdle muscular dystrophy type 1G
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An autosomal dominant limb-girdle muscular dystrop.. [+]
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.
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autosomal dominant nonsyndromic deafness 1
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LFHL1; autosomal dominant deafness 1; DFNA1; hered..
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LFHL1; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia
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An autosomal dominant nonsyndromic deafness that i.. [+]
An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
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Stromme syndrome
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lethal fetal brain malformation-duodenal atresia-b..
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lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; CILD31; jejunal atresia with microcephaly and ocular anomalies; primary ciliary dyskinesia 31; apple peel syndrome with microcephaly and ocular anomalies
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A primary ciliary dyskinesia that is characterized.. [+]
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
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congenital muscular dystrophy due to LMNA mutation
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L-CMD; LMNA-related congenital muscular dystrophy; ..
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LMNA-related congenital muscular dystrophy; L-CMD; congenital muscular dystrophy LMNA-related
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A congenital muscular dystrophy characterized by a.. [+]
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
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congenital myasthenic syndrome 10
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LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic s..
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LGM; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; familial limb-girdle myasthenia; congenital muscular dystrophy merosin-positive
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A congenital myasthenic syndrome characterized by .. [+]
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
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hypotrichosis 6
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Lah1; autosomal recessive localized hypotrichosis; ..
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Lah1; autosomal recessive localized hypotrichosis; Hypt6; Monilethrix-like hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1
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A hypotrichosis that has_material_basis_in a autos.. [+]
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.
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hypotrichosis 7
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Lah2; hypotrichosis, localized, autosomal recessiv..
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Lah2; hypotrichosis, localized, autosomal recessive 2; Hypt7; total Mari type hypotrichosis,
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A hypotrichosis that has_material_basis_in a autos.. [+]
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.
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hypotrichosis 8
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Lah3; Hypt8; hypotrichosis, localized, autosomal r..
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Lah3; Hypt8; hypotrichosis, localized, autosomal recessive 3
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A hypotrichosis has_material_basis_in a autosomal .. [+]
A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2.
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hereditary spastic paraplegia 23
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Lison syndrome; spastic paraplegia 23; Spastic par..
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Lison syndrome; spastic paraplegia 23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; spastic paraplegia with pigmentary abnormalities; SPG23
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.
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hereditary spastic paraplegia 35
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leukodystrophy, dysmyelinating and spastic parapar..
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leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FAHN; fatty acid hydroxylase-associated neurodegeneration; SPG35
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A hereditary spastic paraplegia that has_material_.. [+]
A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1.
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hyperphosphatemic familial tumoral calcinosis
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lipocalcinogranulomatosis; cortical hyperostosis w..
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lipocalcinogranulomatosis; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia
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A calcinosis characterized by autosomal recessive .. [+]
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
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Castleman disease
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lymphoid hamartoma; angiofollicular lymph hyperpla..
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lymphoid hamartoma; angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia
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A lymphoproliferative syndrome characterized by on.. [+]
A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.
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amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
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Lytico-Bodig disease; Guam disease; Amyotrophic la..
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Lytico-Bodig disease; Guam disease; Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam; parkinsonism-dementia-ALS complex; PDALS; ALS-PDC
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A neurodegenerative disease characterized by chron.. [+]
A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.
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pentosuria
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L-xylulose reductase deficiency; L-xylulosuria; es..
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L-xylulosuria; L-xylulose reductase deficiency; essential pentosuria; PNTSU; xylitol dehydrogenase deficiency
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An amino acid metabolic disorder characterized by .. [+]
An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
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Oliver-McFarlane syndrome
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long eyelashes-intellectual disability syndrome; O..
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long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome; eyelashes long mental retardation
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A syndrome characterized by trichomegaly, severe c.. [+]
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
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congenital leptin deficiency
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LEPD; leptin deficiency or dysfunction; morbid obe..
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leptin deficiency or dysfunction; LEPD; morbid obesity; obesity due to congenital leptin deficiency
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A syndrome characterized by severe early-onset obe.. [+]
A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
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mucopolysaccharidosis Ih
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L-iduronidase deficiency, Hurler type; gargoylism; ..
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L-iduronidase deficiency, Hurler type; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; MPS1-H; Mucopolysaccharidosis type I severe form; dysostosis multiplex; Dysostosis multiplex syndrome
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A mucopolysaccharidosis I characterized by a sever.. [+]
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
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