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Disease	Synonyms	Description	Articles	Phenotypes
choreaacanthocytosis	Levine-Critchley syndrome; choreoacanthocytosis; c.. [+] Levine-Critchley syndrome; choreoacanthocytosis; choreo-acanthocytosis [-]	A neuroacanthocytosis characterized by progressive..[+] A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. [-]
congenital adrenal hyperplasia	lipoid CAH; adrenal hyperplasia 1; congenital lipo.. [+] lipoid CAH; adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. [-]
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; CNS PNE.. [+] localized primitive neuroectodermal tumor; CNS PNET; infratentorial primitive neuroectodermal tumor; brain medulloblastoma; CPNET; 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. [-]	1 articles	6 matches
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. [-]	1 articles
Timothy syndrome	long QT syndrome with syndactyly	A syndrome characterized by cardiac, hand/foot, fa..[+] A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. [-]	3 articles
carnitine palmitoyltransferase II deficiency	late-onset carnitine palmitoyltransferase II defic.. [+] late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal 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. [-]	1 articles
3-M syndrome	Le Merrer syndrome; gloomy face syndrome; three M .. [+] Le Merrer syndrome; gloomy face syndrome; three M syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
MASA syndrome	L1 syndrome; hereditary spastic paraplegia 1; SPG1.. [+] L1 syndrome; hereditary spastic paraplegia 1; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked spastic paraplegia 1; Gareis-Mason syndrome; X-linked corpus callosum agenesis; CRASH syndrome [-]	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 by variable expression of..[+] A syndrome characterized by variable 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 [-]	An osteochondrodysplasia that is a form of microce..[+] An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. [-]	1 articles
autosomal recessive congenital ichthyosis	lamellar ichthyosis; ARCI; non bullous congenital .. [+] lamellar ichthyosis; ARCI; non bullous congenital ichthyosiform erythroderma [-]	An ichthyosis that is characterized by autosomal r..[+] An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. [-]
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 heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 8	lamellar ichthyosis 4; late-onset lamellar ichthyo.. [+] lamellar ichthyosis 4; late-onset lamellar ichthyosis; 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. [-]	1 articles
hypomyelinating leukodystrophy 7	leukoencephalopathy-ataxia-hypodontia-hypomyelinat.. [+] leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; leukodystrophy with oligodontia; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; TACH syndrome; dentoleukoencephalopathy; 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 with spasticity; X-linked mental retardation 79 [-]	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. [-]
Norman-Roberts syndrome	lissencephaly 2; lissencephaly syndrome, Norman-Ro.. [+] lissencephaly 2; lissencephaly syndrome, Norman-Roberts type [-]	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. [-]
distal myopathy 1	Laing early-onset distal myopathy; Laing distal my.. [+] Laing early-onset distal myopathy; Laing distal myopathy; Distal myopathy type 1; Gowers disease; MPD1 [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. [-]
familial partial lipodystrophy type 6	LIPE-related FPLD; LIPE-related familial partial l.. [+] LIPE-related FPLD; LIPE-related familial partial lipodystrophy; familial partial lipodystrophy associated with LIPE mutations; FPLD6 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. [-]
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 ID	LMPH1D	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. [-]
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. [-]
hereditary lymphedema IB	LMPH1B	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. [-]
hereditary lymphedema I	LMPH1; congenital primary lymphedema; PCL; Nonne-M.. [+] LMPH1; congenital primary lymphedema; PCL; Nonne-Milroy lymphedema; Milroy disease; hereditary lymphedema type I [-]	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. [-]
hereditary lymphedema II	late-onset lymphedema; lymphedema preacox; LMPH2; .. [+] LMPH2; lymphedema preacox; late-onset lymphedema; Meige disease; Meige lymphedema [-]	A hereditary lymphedema characterized by onset aro..[+] A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. [-]
diphthamide deficiency syndrome 1	Loucks-Innes syndrome; DEDSSH1; developmental dela.. [+] Loucks-Innes syndrome; DEDSSH1; developmental delay with short stature, dysmorphic facial features, and sparse hair 1; DPH1 syndrome [-]	A diphthamide deficiency syndrome that has_materia..[+] A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. [-]
schwannomatosis 2	LZTR1-related schwannomatosis; neurofibromatosis 3.. [+] LZTR1-related schwannomatosis; neurofibromatosis 3; SWN2 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. [-]
inflammatory poikiloderma with hair abnormalities and acral keratoses	LIPHAK syndrome; LIPHAK; IPHAK	A skin disease characterized by mottled hyper- and..[+] A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. [-]
peeling skin syndrome 2	localized peeling skin syndrome; acral peeling ski.. [+] localized peeling skin syndrome; acral peeling skin syndrome; APSS; PSS2 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. [-]
arrhythmogenic left ventricular cardiomyopathy	left-dominant arrhythmogenic cardiomyopathy; left .. [+] left-dominant arrhythmogenic cardiomyopathy; left ventricular ACM; ALVC [-]	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. [-]
autosomal recessive spinocerebellar ataxia 19	Lichtenstein-Knorr syndrome; SCAR19	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. [-]
myofibrillar myopathy 3	LGMD 1A; myotilinopathy; autosomal dominant limb-g.. [+] LGMD 1A; myotilinopathy; autosomal dominant limb-girdle muscular dystrophy type 1A; spheroid body myopathy [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. [-]
infantile myofibromatosis	lipofibromatosis	A connective tissue benign neoplasm that is charac..[+] A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. [-]
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. [-]
primary mediastinal B-cell lymphoma	Large cell lymphoma of the mediastinum; Mediastina.. [+] Large cell lymphoma of the mediastinum; Mediastinal diffuse large-cell lymphoma with sclerosis; Primary mediastinal clear cell lymphoma of B-cell type [-]	A large B-cell lymphoma that is is characterized b..[+] A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. [-]
acquired generalized lipodystrophy	Lawrence syndrome	A complete generalized lipodystrophy that is chara..[+] A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
megalencephalic leukoencephalopathy with subcortical cysts 1	leukoencephalopathy with swelling and cysts; Van D.. [+] leukoencephalopathy with swelling and cysts; Van Der Knaap disease [-]	A megalencephalic leukoencephalopathy with subcort..[+] A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. [-]
Noonan syndrome with multiple lentigines 1	LEOPARD syndrome 1	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. [-]
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. [-]
Noonan syndrome with multiple lentigines 3	LEOPARD syndrome 3	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Z	limb-girdle muscular dystrophy 21	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. [-]
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. [-]

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