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Disease	Synonyms	Description	Articles	Phenotypes
chromosome 22q11.2 microduplication syndrome	trisomy 22q11.2; 22q11.2 microduplication syndrome.. [+] trisomy 22q11.2; 22q11.2 microduplication syndrome; duplication 22q11.2 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. [-]
chromosome 3q29 microduplication syndrome	trisomy 3q29; 3q29 microduplication	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. [-]
chromosome 5p13 duplication syndrome	trisomy 5p13; 5p13 microduplication syndrome	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. [-]
chromosome Xp11.23-p11.22 duplication syndrome	trisomy Xp11.22-p11.23; microduplication Xp11.22-p.. [+] trisomy Xp11.22-p11.23; microduplication Xp11.22-p11.23 syndrome [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. [-]
horned turban snail allergy	Turbo cornutus allergy	A snail allergy triggered by the horned turban sna..[+] A snail allergy triggered by the horned turban snail. [-]
ankyloglossia	tongue-tie	A tongue disease characterized by an unusually sho..[+] A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. [-]
microcephalic osteodysplastic primordial dwarfism type I	Taybi-Linder syndrome; brachymelic primordial dwar.. [+] Taybi-Linder syndrome; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I [-]	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
Pendred Syndrome	thyroid dyshormonogenesis 2B; TDH2B; congenital hy.. [+] TDH2B; thyroid dyshormonogenesis 2B; congenital hypothyroidism due to dyshormonogenesis 2B; genetic defect in thyroid hormonogenesis 2B; deafness with goiter; goiter-deafness syndrome [-]	A syndrome characterized by bilateral prelingual s..[+] A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]	4 articles
restrictive dermopathy	tight skin contracture syndrome; lethal restrictiv.. [+] tight skin contracture syndrome; lethal restrictive dermopathy; Infantile restrictive dermopathy; hyperkeratosis-contracture syndrome; Lethal tight skin contracture syndrome [-]	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
congenital diarrhea 5 with tufting enteropathy	tufting enteropathy; congenital familial intractab.. [+] tufting enteropathy; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; DIAR5; congenital diarrhoea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy [-]	A congenital diarrhea characterized by intractable..[+] A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. [-]
hypomyelinating leukodystrophy 7	tremor-ataxia-central hypomyelination syndrome; TA.. [+] tremor-ataxia-central hypomyelination syndrome; TACH syndrome; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-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. [-]
hereditary neuropathy with liability to pressure palsies	tulip-bulb digger's palsy; tomaculous neuropathy; .. [+] tomaculous neuropathy; tulip-bulb digger's palsy; heterozygous microdeletion 17p11.2p12; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; HNPP; potato-grubbing palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
Potocki-Lupski syndrome	trisomy 17p11.2; 17p11.2 microduplication syndrome.. [+] trisomy 17p11.2; 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. [-]
mal de Meleda	transgrediens palmoplantar keratoderma of Siemens; .. [+] transgrediens palmoplantar keratoderma of Siemens; keratosis palmoplantaris transgrediens of Siemens; MDM; palmoplantar keratoderma, Gamborg-Nielsen type; Meleda disease; palmoplantar keratoderma, Norrbotten type; PPK, Gamborg-Nielsen type; PPKGN; PPKNR [-]	A palmoplantar keratosis characterized by autosoma..[+] A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. [-]
prune belly syndrome	triad syndrome; Eagle-Barret syndrome; Obrisnksy s.. [+] triad syndrome; Eagle-Barret syndrome; Obrisnksy syndrome; abdominal muscle deficiency syndrome; Eagle-Barrett syndrome; Obrinsky syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
infantile hypotonia with psychomotor retardation and characteristic facies-3	TBCK-related intellectual disability syndrome; HYP.. [+] TBCK-related intellectual disability syndrome; HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. [-]
nonphotosensitive trichothiodystrophy 8	TTD8	A nonphotosensitive trichothiodystrophy that is ch..[+] A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. [-]
nonphotosensitive trichothiodystrophy 9	TTD9	A nonphotosensitive trichothiodystrophy that is ch..[+] A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. [-]
congenital nongoitrous hypothyroidism 1	TSH resistance; CHNG1	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. [-]
Y-linked spermatogenic failure 1	type I Sertoli cell-only syndrome; SPGFY1; Y-linke.. [+] type I Sertoli cell-only syndrome; SPGFY1; 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. [-]
progressive familial intrahepatic cholestasis 4	TJP2 deficit; PFIC4	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. [-]
congenital disorder of glycosylation type IIk	TMEM165-CDG; CDGIIdk; Carbohydrate deficient glyco.. [+] TMEM165-CDG; CDGIIdk; Carbohydrate deficient glycoprotein syndrome type IIk; CDG IIk; CDG syndrome type IIk; CDGIIk; CDG2K; Congenital disorder of glycosylation type 2k [-]	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 TMEM165 gene on chromosome 4q12. [-]
congenital disorder of glycosylation type IIp	TMEM199-CDG; CDGIIdp; Carbohydrate deficient glyco.. [+] TMEM199-CDG; CDGIIdp; Carbohydrate deficient glycoprotein syndrome type IIp; CDG IIp; CDG syndrome type IIp; CDG2P; Congenital disorder of glycosylation type 2p; CDGIIp [-]	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 TMEM199 gene on chromosome 17q11.2. [-]
primary microcephaly	true microcephaly	A microcephaly characterized by microcephaly prese..[+] A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. [-]
Miura type epiphyseal chondrodysplasia	tall stature-scoliosis-macrodactyly of the halluce.. [+] tall stature-scoliosis-macrodactyly of the halluces syndrome; tall stature-scoliosis-macrodactyly of the great toes syndrome; ECDM [-]	A bone developmental disease characterized by tall..[+] A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. [-]
nonsyndromic congenital nail disorder 1	twenty-nail dystrophy; nonsyndromic congenital nai.. [+] twenty-nail dystrophy; nonsyndromic congenital nail disorder 10 [-]	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. [-]
mitochondrial DNA depletion syndrome 2	TK2-related mitochondrial DNA depletion syndrome, .. [+] TK2-related mitochondrial DNA depletion syndrome, myopathic form [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. [-]
congenital fibrosis of the extraocular muscles	Tukel syndrome	An ocular motility disease that is characterized b..[+] An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. [-]
childhood T-cell acute lymphoblastic leukemia	T-cell childhood acute lymphocytic leukemia; child.. [+] T-cell childhood acute lymphocytic leukemia; childhood precursor T-lymphoblastic lymphoma/leukemia [-]	A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. [-]
esophageal atresia/tracheoesophageal fistula	tracheoesophageal fistula with or without esohagea.. [+] tracheoesophageal fistula with or without esohageal atresia; esophageal atresia and/or tracheoesophageal fistula [-]	A gastrointestinal system disease that is characte..[+] A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. [-]	5 articles	11 matches
poor metabolism of thiopurines	TPMT deficiency; thiopurine S-methyltransferase de.. [+] TPMT deficiency; thiopurine S-methyltransferase deficiency; poor metabolism of thiopurines-1 [-]	An inherited metabolic disease that is characteriz..[+] An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. [-]
superior semicircular canal dehiscence	third mobile window syndrome; minorâ€™s syndrome; .. [+] third mobile window syndrome; minorâ€™s syndrome; superior canal syndrome; canal dehiscence syndrome; superior canal dehiscence; superior semicircular canal dehiscence syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. [-]
anaplastic thyroid carcinoma	thyroid gland anaplastic carcinoma; anaplastic thy.. [+] thyroid gland anaplastic carcinoma; anaplastic thyroid carcinoma [-]	A thyroid gland carcinoma that is composed of undi..[+] A thyroid gland carcinoma that is composed of undifferentiated cells. [-]
latent autoimmune diabetes in adults	type 1.5 diabetes; LADA	A type 1 diabetes mellitus that is characterized b..[+] A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable Î²-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. [-]
gestational diabetes insipidus	transient diabetes insipidus of pregnancy	A diabetes insipidus that is characterized by prog..[+] A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	TMCO1 defect syndrome; Cerebro-facio-thoracic dysp.. [+] TMCO1 defect syndrome; Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; Pascual-Castroviejo syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]	1 articles
Graves ophthalmopathy	thyroid eye disease; Thyroid associated ophthalmop.. [+] thyroid eye disease; Thyroid associated ophthalmopathy; Graves orbitopathy [-]	An autoimmune disease of eyes, ear, nose and throa..[+] An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. [-]
BH4-deficient hyperphenylalaninemia C	tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+] tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. [-]
BH4-deficient hyperphenylalaninemia D	tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+] tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. [-]
intrathyroid thymic carcinoma	Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differ.. [+] Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation; Carcinoma showing thymus-like differentiation; CASTLE; Carcinoma showing thymus-like element; Intrathyroid thymic carcinoma [-]	A thyroid gland carcinoma composed of groups of ca..[+] A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. [-]
corticosteroid-binding globulin deficiency	transcortin deficiency; CBG deficiency	An adrenal gland disease characterized by decrease..[+] An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. [-]
BH4-deficient hyperphenylalaninemia A	tetrahydobioperin-deficient hyperphenylalaninemia .. [+] tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
cataract 44	total early-onset cataract; CTRCT44	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. [-]
hypotrichosis 7	total hyptrichosis, Mari type; total Mari type hyp.. [+] total hyptrichosis, Mari type; total Mari type hypotrichosis,; Hypt7; Lah2; hypotrichosis, localized, autosomal recessive 2; HYPT7; LAH2 [-]	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. [-]
brachydactyly type A4	Temtamy type brachydactyly; BDA4; brachymesophalan.. [+] Temtamy type brachydactyly; BDA4; brachymesophalangy II and V [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. [-]
hemochromatosis type 3	TFR2-related hemochromatosis; hemochromatosis due .. [+] TFR2-related hemochromatosis; hemochromatosis due to defect in transferrin receptor 2; HFE3 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. [-]
platelet-type bleeding disorder 14	thromboxane synthase deficiency; BDPLT14	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. [-]
hyperphosphatemic familial tumoral calcinosis	tumoral calcinosis with hyperphosphatemia; HHS; fa.. [+] tumoral calcinosis with hyperphosphatemia; HHS; familial Teutschlaender disease; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis [-]	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. [-]
congenital bile acid synthesis defect 4	trihydroxycoprostanic acid in bile; intrahepatic c.. [+] trihydroxycoprostanic acid in bile; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; CBAS4 [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. [-]
congenital generalized lipodystrophy type 2	total lipodystrophy and acromegaloid gigantism; Be.. [+] total lipodystrophy and acromegaloid gigantism; Berardinelli-Seip congenital lipodystrophy type 2; Brunzell syndrome BSCL2-related; congenital lipoatrophic diabetes; CGL2; Berardinelli-Seip syndrome [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. [-]

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