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Disease	Synonyms	Description	Articles	Phenotypes
connective tissue benign neoplasm	soft tissue benign neoplasm; tumor of the soft tis.. [+] soft tissue benign neoplasm; tumor of the soft tissue; neoplasm of soft tissue; neoplasm of soft tissues; mesenchymal tissue neoplasm [-]	A musculoskeletal system benign neoplasm that is l..[+] A musculoskeletal system benign neoplasm that is located_in connective tissue. [-]
alpha chain disease	Seligmann's disease	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of alpha antibodies (IgA). [-]
astereognosia	somatosensory agnosia	An agnosia that is the loss of the ability to reco..[+] An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. [-]
childhood spinal muscular atrophy	survival motor neuron spinal muscular atrophy; spi.. [+] survival motor neuron spinal muscular atrophy; spinal muscular atrophies of childhood [-]	A spinal muscular atrophy that is associated with ..[+] A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. [-]	1 articles
Kennedy's disease	Spinobulbar Muscular Atrophy; spinal bulbar muscul.. [+] Spinobulbar Muscular Atrophy; spinal bulbar muscular atrophy; SBMA; Kennedy disease; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar Muscular Atrophy [-]	A spinal muscular dystrophy that has_material_basi..[+] A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. [-]	1 articles
Renpenning syndrome	syndromic X-linked mental retardation 8; Sutherlan.. [+] syndromic X-linked mental retardation 8; Sutherland-Haan X-linked mental retardation syndrome; X-linked intellectual disability due to PQBP1 mutations; X-linked intellectual disability, Renpenning type; X-linked mental retardation Renpenning type; X-linked mental retardation with spastic diplegia; Golabi-Ito-Hall syndrome [-]	An intellectual disability that is characterized b..[+] An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [-]	1 articles	18 matches
intracranial berry aneurysm	saccular cerebral aneurysm; familial intracranial .. [+] saccular cerebral aneurysm; familial intracranial saccular aneurysm; familial aneurysmal subarachnoid hemorrhage; familial berry aneurysm [-]	An intracranial aneurysm with a characteristic rou..[+] An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [-]
Mast syndrome	SPG21; autosomal recessive spastic paraplegia 21; .. [+] SPG21; autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; autosomal recessive spastic paraplegia type 21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
MASA syndrome	SPG1; hereditary spastic paraplegia 1; L1 syndrome.. [+] SPG1; hereditary spastic paraplegia 1; L1 syndrome; 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. [-]
Ohdo syndrome, SBBYS variant	SBBYSS; Say-Barber-Biesecker-Young-Simpson syndrom.. [+] SBBYSS; Say-Barber-Biesecker-Young-Simpson syndrome; Ohdo syndrome, SBBYS Variant; blepharophimosis-intellectual disability syndrome, SBBYS type [-]	A Ohdo syndrome that is characterized by blepharop..[+] A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. [-]
cold-induced sweating syndrome	Sohar-Crisponi syndrome; Crisponi syndrome	A syndrome that is characterized by profuse sweati..[+] A syndrome that is characterized by profuse sweating induced by cold ambient temperature. [-]
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; hypoparathyroidism with sh.. [+] Sanjad-Sakati syndrome; hypoparathyroidism with short stature, mental retardation and seizures; HRD syndrome [-]	A syndrome characterized by permanent parathyroid ..[+] A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. [-]
Galloway-Mowat syndrome 1	SCAR5; Galloway syndrome; nephrosis-microcephaly s.. [+] SCAR5; Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; microcephaly, hiatal hernia and nephrotic syndrome; autosomal recessive spinocerebellar ataxia 5 [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
orofaciodigital syndrome III	Sugarman syndrome	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. [-]
chromosome 1p36 deletion syndrome	subtelomeric 1p36 deletion; 1p36 deletion syndrome.. [+] subtelomeric 1p36 deletion; 1p36 deletion syndrome; monosomy 1p36; deletion 1p36 [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. [-]
gelatinous drop-like corneal dystrophy	subepithelial amyloidosis of the cornea; primary f.. [+] subepithelial amyloidosis of the cornea; primary familial amyloidosis of the cornea; GDCD; corneal amyloidosis [-]	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; MECD; juvenile hereditary .. [+] Stocker-Holt dystrophy; MECD; juvenile hereditary epithelial dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. [-]
posterior polymorphous corneal dystrophy	Schlichting dystrophy; PPCD; hereditary polymorphu.. [+] Schlichting dystrophy; PPCD; hereditary polymorphus posterior corneal dystrophy [-]	A corneal dystrophy that is characterized by chang..[+] A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. [-]
EAST syndrome	seizures, sensorineural deafness, ataxia, mental r.. [+] seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy [-]	A syndrome characterized by seizures, sensorineura..[+] A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]	4 articles
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 chronic myeloid leukaemia; atypical chronic myeloid leukaemia BCR-ABL1 negative; atypical CML [-]	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 is characterized by posterior limb..[+] A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. [-]	1 articles
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. [-]
anterior segment dysgenesis	sclerocornea with other ocular anomalies; anterior.. [+] sclerocornea with other ocular anomalies; anterior segment developmental anomaly; corneal opacification and other ocular anomalies [-]	An eye disease that is characterized by iris hypop..[+] An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. [-]
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. [-]	6 articles
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	severe T-cell immunodeficiency-congenital alopecia.. [+] severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; winged helix deficiency; alymphoid cystic thymic dysgenesis [-]	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 [-]	A syndrome characterized by cleft lip, cleft palat..[+] A syndrome 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 20; syndromi.. [+] syndromic X-linked mental retardation 20; syndromic X-linked mental retardation 25; 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; primordial dwarfism; pituitary dwarfism I [-]	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. [-]
bullous congenital ichthyosiform erythroderma	superficial epidermolytic ichthyosis; ichthyosis b.. [+] superficial epidermolytic ichthyosis; ichthyosis bullosa of Siemens; bullous type ichthyosis [-]	An ichthyosis characterized by congenital erythema..[+] An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
X-linked spermatogenic failure 2	SPGFX2	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. [-]
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. [-]
Y-linked spermatogenic failure 2	SPGFY2; nonobstructive Y-linked spermatogenic fail.. [+] SPGFY2; nonobstructive Y-linked spermatogenic failure [-]	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. [-]
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. [-]
benign recurrent intrahepatic cholestasis 1	Summerskill syndrome; BRIC type 1; BRIC1	A benign recurrent intrahepatic cholestasis charac..[+] A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. [-]
primary coenzyme Q10 deficiency 4	spinocerebellar ataxia, autosomal recessive 9; SCA.. [+] spinocerebellar ataxia, autosomal recessive 9; SCAR9; coenzyme Q10 deficiency, primary, 4; COQ10D4 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	scapuloilioperoneal atrophy with cardiopathy; auto.. [+] scapuloilioperoneal atrophy with cardiopathy; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
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. [-]
congenital disorder of glycosylation type IIn	SLC39A8-CDG; Carbohydrate deficient glycoprotein s.. [+] SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn; CDG IIn; CDG syndrome type IIn; CDG2N; CDGIIdn; Congenital disorder of glycosylation type 2n [-]	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 SLC39A8 gene on chromosome 4q24. [-]
miliaria profunda	SNOMEDCT_US_2020_03_01:47317002; ICD10CM:L74.2	A miliaria that is characterized by ductal occlusi..[+] A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. [-]
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. [-]
autosomal recessive spinocerebellar ataxia 29	SCAR29	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. [-]
autosomal recessive spinocerebellar ataxia 30	SCAR30	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. [-]
autosomal recessive spinocerebellar ataxia 31	SCAR31	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. [-]
autosomal recessive spinocerebellar ataxia 32	SCAR32	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. [-]
autosomal recessive spinocerebellar ataxia 33	SCAR33	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. [-]

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