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Disease	Synonyms	Description
spasmodic dystonia	laryngeal dystonia	A focal dystonia that involves the muscles that co..[+] A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. [-]
medulloblastoma	localized primitive neuroectodermal tumor; brain m.. [+] localized primitive neuroectodermal tumor; brain medulloblastoma; CNS PNET; CPNET; infratentorial primitive neuroectodermal tumor; Medulloblastoma, histologically defined [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]
DNA ligase IV deficiency	LIG4 Syndrome	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. [-]
brain glioma	lower grade glioma	A brain cancer that has_material_basis_in glial ce..[+] A brain cancer that has_material_basis_in glial cells. [-]
carnitine palmitoyltransferase II deficiency	lethal neonatal carnitine palmitoyltransferase II .. [+] lethal neonatal carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; CPT-II; infantile carnitine palmitoyltransferase II deficiency [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]
Van der Woude syndrome	lip-pit syndrome	A syndrome characterized by the combination of low..[+] A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. [-]
3-M syndrome	Le Merrer syndrome; dolichospondylic dysplasia; gl.. [+] Le Merrer syndrome; dolichospondylic dysplasia; gloomy face syndrome; Miller-McKusick-Malvaux syndrome; three M syndrome; Yakut short stature syndrome [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
MASA syndrome	L1 syndrome; CRASH syndrome; Gareis-Mason syndrome.. [+] L1 syndrome; CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	lymphedema, microcephaly and chorioretinopathy syn.. [+] lymphedema, microcephaly and chorioretinopathy syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; chorioretinal dysplasia-microcephaly-mental retardation syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome [-]	A syndrome characterized byvariable expression of ..[+] A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [-]
Hennekam syndrome	lymphedem-lymphangiectasia-intellectual disability.. [+] lymphedem-lymphangiectasia-intellectual disability syndrome; Hennekam lymphangiectasia-lymphedema syndrome [-]	A lymphatic system disease characterized by he pre..[+] A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. [-]
white shrimp allergy	Litopenaeus vannamei allergy	A crustacean allergy triggered by Litopenaeus vann..[+] A crustacean allergy triggered by Litopenaeus vannamei. [-]
microcephalic osteodysplastic primordial dwarfism type I	low-birth-weight dwarfism with skeletal dysplasia; .. [+] low-birth-weight dwarfism with skeletal dysplasia; brachymelic primordial dwarfism; cephaloskeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. [-]
autosomal recessive congenital ichthyosis 3	lamellar ichthyosis 5; ARCI3	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. [-]
autosomal recessive congenital ichthyosis 4A	lamellar ichthyosis 2; ARCI4A; ichthyosis congenit.. [+] lamellar ichthyosis 2; ARCI4A; ichthyosis congenita IIB; ICR2B [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 8	late-onset lamellar ichthyosis; lamellar ichthyosi.. [+] late-onset lamellar ichthyosis; lamellar ichthyosis 4; ARCI8 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. [-]
restrictive dermopathy	Lethal tight skin contracture syndrome; lethal res.. [+] Lethal tight skin contracture syndrome; lethal restrictive dermopathy; hyperkeratosis-contracture syndrome; tight skin contracture syndrome; Infantile restrictive dermopathy [-]	A skin disease characterized by thin, tightly adhe..[+] A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. [-]
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism	leukoencephalopathy-ataxia-hypodontia-hypomyelinat.. [+] leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; leukodystrophy with oligodontia; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
syndromic X-linked intellectual disability Lubs type	Lubs X-linked mental retardation syndrome; MECP2 d.. [+] Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; mental retardation, X-linked, syndromic, Lubs type; mental retardation, X-linked, with recurrent respiratory infections; MRXSL; X-linked intellectual disability-hypotonia-recurrent Infections syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	Lindsay-Burn syndrome; mental retardation with psy.. [+] Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
Waldenstroem's macroglobulinemia	lymphoplasmacytic lymphoma with IgM gammopathy	A lymphoplasmacytic lymphoma characterized by the ..[+] A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. [-]
Norman-Roberts syndrome	lissencephaly syndrome, Norman-Roberts type; lisse.. [+] lissencephaly syndrome, Norman-Roberts type; lissencephaly 2 [-]	A lissencephaly that has_material_basis_in homozyg..[+] A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. [-]
hereditary lymphedema IC	LMPH1C	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. [-]
hereditary lymphedema IA	LMPH1A	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 3	light fixation seizure syndrome; M syndrome	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. [-]
acquired generalized lipodystrophy	Lawrence syndrome	A complete generalized lipodystrophy that is charc..[+] A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
Noonan syndrome with multiple lentigines 2	LEOPARD syndrome 2	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. [-]
immunoglobulin light chain amyloidosis	Light chain amyloidosis; AL amyloidosis; Amyloidos.. [+] Light chain amyloidosis; AL amyloidosis; Amyloidosis primary systemic; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]
central conducting lymphatic anomaly	lymphatic malformation-7	A lymphatic system disease that is characterized b..[+] A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. [-]
epidermolysis bullosa simplex with muscular dystrophy	limb-girdle muscular dystrophy with epidermolysis .. [+] limb-girdle muscular dystrophy with epidermolysis bullosa simplex; epidermolysis bullosa simplex and limb-girdle muscular dystrophy [-]	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. [-]
split hand-foot malformation	lobster-claw deformity; split-hand deformity	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. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	Leydig cell hypoplasia due to luteinizing hormone .. [+] 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; fertile eunuch syndrome; Pasqualini syndrome [-]	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. [-]
brain small vessel disease 1	leukoencephalopathy with Axenfeld-Riegar anomaly; .. [+] leukoencephalopathy with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; 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; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; infantile hemiparesis; BSVD1; COL4A1-related familial vascular leukoencephalopathy [-]	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. [-]
carnitine palmitoyltransferase I deficiency	L-CPT1 deficiency; carnitine palmitoyl transferase.. [+] L-CPT1 deficiency; carnitine palmitoyl transferase 1A deficiency; carnitine palmitoyl transferase IA deficiency; CPT I deficiency; CPT1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; hepatic CPT deficiency type I [-]	A lipid metabolism disorder characterized by autos..[+] A lipid metabolism disorder characterized by autosomal recessive inheritance of impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the CPT1A gene on chromosome 11q13. [-]
cataract 23	lamellar cataract 23; CTRCT23	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	limb-girdle muscular dystrophy due to calpain defi.. [+] limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Leyden-Moebius muscular dystrophy; muscular dystrophy, limb-girdle, type 2A; pelvofemoral muscular dystrophy; primary calpainopathy [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2B	limb-girdle muscular dystrophy type 3; limb-girdle.. [+] limb-girdle muscular dystrophy type 3; limb-girdle muscular dystrophy due to dysferlin deficiency; LGMD3; LGMD2B [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	limb-girdle muscular dystrophy due to gamma-sarcog.. [+] 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; Maghrebian myopathy; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2D	LGMD2D; Alpha-sarcoglycanopathy; DMDA2; Duchenne-l.. [+] LGMD2D; Alpha-sarcoglycanopathy; DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; muscular dystrophy, limb-girdle, type 2D; primary adhalinopathy [-]	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; 600119) on chromosome 17q. [-]
autosomal recessive limb-girdle muscular dystrophy type 2E	Limb-girdle muscular dystrophy due to beta-sarcogl.. [+] Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; LGMD2E; Beta-sarcoglycanopathy; muscular dystrophy, limb-girdle, type 2E [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2F	limb-girdle muscular dystrophy due to delta-sarcog.. [+] limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; LGMD2F; delta-sarcoglycanopathy [-]	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). [-]
autosomal recessive limb-girdle muscular dystrophy type 2G	limb-girdle muscular dystrophy due to telethonin d.. [+] limb-girdle muscular dystrophy due to telethonin deficiency; LGMD2G; muscular dystrophy, limb-girdle, type 2G [-]	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). [-]
autosomal recessive limb-girdle muscular dystrophy type 2H	limb-girdle muscular dystrophy due to TRIM32 defic.. [+] limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD2H; muscular dystrophy Hutterite type; sarcotubular myopathy [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2J	LGMD2J; muscular dystrophy, limb-girdle, type 2J	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). [-]
autosomal recessive limb-girdle muscular dystrophy type 2L	LGMD2L; muscular dystrophy, limb-girdle, type 2L	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Q	LGMD2Q; autosomal recessive limb-girdle muscular d.. [+] LGMD2Q; autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency; muscular dystrophy, limb-girdle, type 2Q [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2R	LGMD2R; autosomal recessive limb-girdle muscular d.. [+] LGMD2R; autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; muscular dystrophy, limb-girdle, type 2R [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the DES gene on chromosome 2q35. [-]
autosomal recessive limb-girdle muscular dystrophy type 2S	LGMD2S; muscular dystrophy, limb-girdle, type 2S	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2W	LGMD2W; muscular dystrophy, limb-girdle, type 2W	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Y	LGMD2Y; autosomal recessive muscular dystrophy due.. [+] LGMD2Y; autosomal recessive muscular dystrophy due to LAP1B deficiency; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, limb-girdle, type 2Y [-]	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. [-]
autosomal recessive limb-girdle muscular dystrophy type 2X	LGMD2X; muscular dystrophy, limb-girdle, type 2X	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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