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Disease	Synonyms	Description
Mast syndrome	SPG21; autosomal recessive spastic paraplegia 21; .. [+] SPG21; autosomal recessive spastic paraplegia 21; autosomal recessive spastic paraplegia type 21; hereditary spastic paraplegia 21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	SPG1; CRASH syndrome; Gareis-Mason syndrome; hered.. [+] SPG1; CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; 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. [-]
blepharophimosis-intellectual disability syndrome, SBBYS type	SBBYSS; Say-Barber-Biesecker-Young-Simpson syndrom.. [+] SBBYSS; Say-Barber-Biesecker-Young-Simpson syndrome; Ohdo syndrome, SBBYS Variant [-]	n_a
cold-induced sweating syndrome	Sohar-Crisponi syndrome; Crisponi syndrome	An autosomal dominant disease characterized by pro..[+] An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. It has material basis in mutations in the CRLF1 gene. [-]
glucocorticoid-induced osteoporosis	steroid-induced osteoporosis	An osteoporosis caused by chronic glucocorticoid u..[+] An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. [-]
hypoparathyroidism-retardation-dysmorphism syndrome	Sanjad-Sakati syndrome; HRD syndrome; hypoparathyr.. [+] Sanjad-Sakati syndrome; HRD syndrome; hypoparathyroidism with short stature, mental retardation and seizures [-]	An autosomal recessive disease characterized by pe..[+] An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. [-]
orofaciodigital syndrome III	Sugarman syndrome	n_a
chromosome 1p36 deletion syndrome	subtelomeric 1p36 deletion; 1p36 deletion syndrome.. [+] subtelomeric 1p36 deletion; 1p36 deletion syndrome; deletion 1p36; monosomy 1p36 [-]	n_a
gelatinous drop-like corneal dystrophy	subepithelial amyloidosis of the cornea; corneal a.. [+] subepithelial amyloidosis of the cornea; corneal amyloidosis; GDCD; primary familial amyloidosis of the cornea [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. [-]
Meesmann corneal dystrophy	Stocker-Holt dystrophy; juvenile hereditary epithe.. [+] Stocker-Holt dystrophy; juvenile hereditary epithelial dystrophy; MECD [-]	n_a
posterior polymorphous corneal dystrophy	Schlichting dystrophy; hereditary polymorphus post.. [+] Schlichting dystrophy; hereditary polymorphus posterior corneal dystrophy; PPCD [-]	A corneal dystrophy that is characterised by chang..[+] A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer. [-]
EAST syndrome	SeSAME syndrome; seizures, sensorineural deafness,.. [+] SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; epilepsy, ataxia, sensorineural deafness and tubulopathy [-]	A syndrome characterize by seizures, sensorineural..[+] A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]
tomato allergy	Solanum lycopersicum fruit allergy	A fruit allergy triggered by Solanum lycopersicum ..[+] A fruit allergy triggered by Solanum lycopersicum plant fruit food product. [-]
Atlantic salmon allergy	Salmo salar fish allergy	A fish allergy triggered by Salmo salar.
green mud crab allergy	Scylla paramamosain allergy	A crustacean allergy triggered by Scylla paramamos..[+] A crustacean allergy triggered by Scylla paramamosain. [-]
atypical chronic myeloid leukemia, BCR-ABL1 negative	subacute myeloid leukemia; subacute myelogenous le.. [+] subacute myeloid leukemia; subacute myelogenous leukemia; subacute granulocytic leukemia; aCML; atypical chronic myeloid leukemia BCR-ABL1 negative; atypical CML; atypical chronic myeloid leukaemia; atypical chronic myeloid leukaemia BCR-ABL1 negative [-]	A myelodysplastic myeloproliferative neoplasm char..[+] A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. [-]
ulnar-mammary syndrome	Schinzel syndrome; Pallister ulnar-mammary syndrom.. [+] Schinzel syndrome; Pallister ulnar-mammary syndrome [-]	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. [-]
recessive dystrophic epidermolysis bullosa	severe generalized recessive dystrophic epidermoly.. [+] severe generalized recessive dystrophic epidermolysis bullosa; severe generalized RDEB; autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type [-]	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. [-]
corneal opacification and other ocular anomalies	sclerocornea with other ocular anomalies	A sclerocornea that has_material_basis_in homozygo..[+] A sclerocornea that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis. [-]
hyperekplexia	startle disease; congenital stiff man syndrome; fa.. [+] startle disease; congenital stiff man syndrome; familial startle disease; hereditary hyperekplexia; Kok disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	severe T-cell immunodeficiency-congenital alopecia.. [+] severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; alymphoid cystic thymic dysgenesis; winged helix deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. [-]
cleft lip-palate-ectodermal dysplasia syndrome	syndactyly-ectodermal dysplasia-cleft/lip palate; .. [+] syndactyly-ectodermal dysplasia-cleft/lip palate; cleft lip/palate-syndactyly-pili torti syndrome; CLPED1; Margarita type of ectodermal dysplasia; Zlotogora-Zilberman-Tenenbaum syndrome [-]	An autosomal recessive disease characterized by cl..[+] An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. [-]
MEHMO syndrome	syndromic X-linked mental retardation 25; syndromi.. [+] syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. [-]
isolated growth hormone deficiency type IA	sexual ateleiotic dwarfism; autosomal recessive is.. [+] sexual ateleiotic dwarfism; autosomal recessive isolated growth hormone deficiency; IGHD IA; Illig-type growth hormone deficiency; pituitary dwarfism I; primordial dwarfism [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. [-]
ichthyosis bullosa of Siemens	superficial epidermolytic ichthyosis; bullous type.. [+] superficial epidermolytic ichthyosis; bullous type ichthyosis [-]	An ichthyosis characterized by autosomal dominant ..[+] An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
Y-linked spermatogenic failure 1	SPGFY1; type I Sertoli cell-only syndrome; Y-linke.. [+] SPGFY1; type I Sertoli cell-only syndrome; Y-linked Sertoli cell-only syndrome [-]	A Sertoli cell-only syndrome that has_material_bas..[+] A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. [-]
X-linked spermatogenic failure 1	SPGFX1	A Sertoli cell-only syndrome characterized by X-li..[+] A Sertoli cell-only syndrome characterized by X-linked inheritance. [-]
benign recurrent intrahepatic cholestasis	Summerskill-Walshe-Tygstrup syndrome; BRIC	An intrahepatic cholestasis characterized by inter..[+] An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. [-]
congenital disorder of glycosylation type IIf	SLC35A1-CDG; Carbohydrate deficient glycoprotein s.. [+] SLC35A1-CDG; Carbohydrate deficient glycoprotein syndrome type IIf; CDG IIf; CDG2F; CDGIIdf; CMP-sialic acid transporter deficiency [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. [-]
congenital disorder of glycosylation type IIm	SLC35A2-CDG; congenital disorder of glycosylation .. [+] SLC35A2-CDG; congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; epileptic encephalopathy, early infantile, 22 [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
autosomal recessive spinocerebellar ataxia 28	SCAR28	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. [-]
hereditary spastic paraplegia 87	SPG87; autosomal recessive spastic paraplegia 87	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. [-]
hereditary spastic paraplegia 90A	SPG90A; autosomal dominant spastic paraplegia 90A; .. [+] SPG90A; autosomal dominant spastic paraplegia 90A [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hereditary spastic paraplegia 90B	SPG90B; autosomal recessive spastic paraplegia 90B.. [+] SPG90B; autosomal recessive spastic paraplegia 90B [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
bone disease	skeletal disease	A connective tissue disease that affects the struc..[+] A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [-]
pseudoachondroplasia	SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTI.. [+] SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC; PSEUDOACHONDROPLASIA; pseudoachondroplastic dysplasia [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. [-]
autosomal recessive spinocerebellar ataxia 13	SCAR13	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. [-]
autosomal recessive spinocerebellar ataxia 20	SCAR20	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. [-]
cleft palate-lateral synechia syndrome	syngnathia; CPLS syndrome	A physical disorder that is characterized by fusio..[+] A physical disorder that is characterized by fusion of maxilla and mandible. [-]
immunoglobulin light chain amyloidosis	Systemic AL amyloidsis; AL amyloidosis; Amyloidosi.. [+] Systemic AL amyloidsis; AL amyloidosis; Amyloidosis primary systemic; Light chain amyloidosis; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis [-]	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. [-]
cauda equina neuroendocrine tumor	Spinal neuroendocrine tumors; Cauda equina neuroen.. [+] Spinal neuroendocrine tumors; Cauda equina neuroendocrine tumour [-]	A cauda equina neoplasm that is a slow-growing, we..[+] A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. [-]
progressive pseudorheumatoid arthropathy of childhood	spondyloepiphyseal dysplasia tarda-progressive art.. [+] spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [-]	A osteochondrodysplasia characterized by autosomal..[+] A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7	A dysostosis characterized by syndactyly, malforma..[+] A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. [-]
brachyolmia-amelogenesis imperfecta syndrome	selective tooth agenesis 5; STHAG6; DASS; dental a.. [+] STHAG6; selective tooth agenesis 5; DASS; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta [-]	An autosomal recessive disease characterized by sk..[+] An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [-]
Donnai-Barrow syndrome	syndrome of ocular and facial anomalies, telecanth.. [+] syndrome of ocular and facial anomalies, telecanthus and deafness; DBS/FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; FOAR syndrome; Holmes-Schepens syndrome [-]	An autosomal recessive disease characterized by fa..[+] An autosomal recessive disease characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LRP2 gene on chromosome 2q31. [-]
asphyxiating thoracic dystrophy 1	SRTD1; short-rib thoracic dysplasia 1 with or with.. [+] SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly; ATD1 [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	SRTD2; short-rib thoracic dysplasia 2 with or with.. [+] SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly; ATD2 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. [-]
asphyxiating thoracic dystrophy 3	SRPS1; SRPS2B; SRPS3; SRTD3; short-rib thoracic dy.. [+] SRTD3; SRPS3; SRPS2B; SRPS1; short-rib thoracic dysplasia 3 with or without polydactyly; short rib-polydactyly syndrome, type IIB; short rib-polydactyly syndrome, type I; Saldino-Noonan syndrome; ATD3; polydactyly with neonatal chondrodystrophy, type I; polydactyly with neonatal chondrodystrophy, type III; Verma-Naumoff syndrome [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
asphyxiating thoracic dystrophy 4	SRTD4; short-rib thoracic dysplasia 4 with or with.. [+] SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly; ATD4 [-]	An asphyxiating thoracic dystrophy has_material_ba..[+] An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
asphyxiating thoracic dystrophy 5	SRTD5; short-rib thoracic dysplasia 5 with or with.. [+] SRTD5; short-rib thoracic dysplasia 5 with or without polydactyly; ATD5 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. [-]

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