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Disease	Synonyms	Description	Articles	Phenotypes
mal de Meleda	transgrediens palmoplantar keratoderma of Siemens; .. [+] transgrediens palmoplantar keratoderma of Siemens; keratosis palmoplantaris transgrediens of Siemens; Meleda disease [-]	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. [-]
congenital nongoitrous hypothryoidism 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; Carbohydrate deficient glycoprotein s.. [+] TMEM165-CDG; Carbohydrate deficient glycoprotein syndrome type IIk; CDG IIk; CDG syndrome type IIk; CDG2K; CDGIIdk; 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; Carbohydrate deficient glycoprotein s.. [+] TMEM199-CDG; Carbohydrate deficient glycoprotein syndrome type IIp; CDG IIp; CDG syndrome type IIp; CDG2P; CDGIIdp; Congenital disorder of glycosylation type 2p [-]	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. [-]
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. [-]	4 articles	11 matches
superior semicircular canal dehiscence	third mobile window syndrome; canal dehiscence syn.. [+] third mobile window syndrome; canal dehiscence syndrome; minorâ€™s syndrome; superior canal dehiscence; superior canal syndrome; 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. [-]
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 β-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. [-]
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. [-]
autosomal dominant familial periodic fever	tumor necrosis factor receptor associated periodic.. [+] tumor necrosis factor receptor associated periodic syndrome; TRAPS; TNF receptor associated periodic syndrome; TNF receptor 1-associated periodic syndrome; tumor necrosis factor receptor 1 associated periodic syndrome; familial hibernian fever; familial Hibernian fever; FHF; FPF; hibernian fever [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
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; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin 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 Mari type hypotrichosis,; hypotrichosis, loc.. [+] total Mari type hypotrichosis,; 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; cortica.. [+] tumoral calcinosis with hyperphosphatemia; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia 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; CBAS4; intrahe.. [+] trihydroxycoprostanic acid in bile; CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid [-]	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. [-]
hypertension and brachydactyly syndrome	type E brachydactyly with short stature and hypert.. [+] type E brachydactyly with short stature and hypertension; Bilginturan brachydactyly; Bilginturan syndrome; brachydactyly with hypertension; HTNB [-]	A syndrome characterized by brachydactyly type E, ..[+] A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. [-]
Oliver-McFarlane syndrome	trichomegaly-retina pigmentary degeneration-dwarfi.. [+] trichomegaly-retina pigmentary degeneration-dwarfism syndrome; long eyelashes-intellectual disability syndrome; OMCS; eyelashes long mental retardation [-]	A syndrome characterized by trichomegaly, severe c..[+] A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. [-]
mitochondrial trifunctional protein deficiency	TFPD; TFP deficiency; MTPD	A lipid metabolism disorder characterized by abnor..[+] A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. [-]
Laurin-Sandrow syndrome	tetramelic mirror-image polydactyly; TMIP; miccor .. [+] TMIP; tetramelic mirror-image polydactyly; miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; Sandrow syndrome [-]	A dysostosis characterized by polysyndactyly of ha..[+] A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	telangiectatic membranoproliferative glomeruloneph.. [+] telangiectatic membranoproliferative glomerulonephritis; glomerulonephritis with sparse hair and telangiectases; HLT-renal defect syndrome; HLTRS; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
benign familial hematuria	thin membrane nephropathy; TMN; thin basement memb.. [+] TMN; thin membrane nephropathy; thin basement membrane nephropathy; BFH [-]	A urinary system disease characterized by the pres..[+] A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	tylosis-oesophageal carcinoma syndrome; tylosis wi.. [+] tylosis-oesophageal carcinoma syndrome; tylosis with esophageal cancer; TOC; Bennion-Patterson syndrome; Howell-Evans syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
familial male-limited precocious puberty	testotoxicosis; FMPP; male-limited precocious pube.. [+] testotoxicosis; FMPP; male-limited precocious puberty; familial gonadotropin-independent male-limited sexual precocity [-]	An endocrine system disease characterized by onset..[+] An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]
retinal arterial tortuosity	tortuosity of retinal arteries; RATOR; retinal art.. [+] tortuosity of retinal arteries; RATOR; retinal arteriolar tortuosity; retinal hemorrhage with vascular tortuosity [-]	An artery disease characterized by pronounced tort..[+] An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. [-]
hypoplastic or aplastic tibia with polydactyly	tibial hemimelia-polysyndactyly-triphalangeal thum.. [+] tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; absence of tibia with polydactyly; absent tibia-polydactyly syndrome; hypoplastic tibiae-postaxial polydactyly syndrome; Werner mesomelic syndrome [-]	A syndrome characterized by preaxial polydactyly o..[+] A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
familial isolated trichomegaly	TCMGLY; long eyelashes	An eyelid disease characterized by prolonged anage..[+] An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
C syndrome	trigonocephaly C syndrome; Opitz C trigonocephaly; .. [+] trigonocephaly C syndrome; Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; OTCS [-]	A syndrome characterized by trigonocephaly, psycho..[+] A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. [-]
distal arthrogryposis type 7	trismus-pseudocamptodactyly syndrome; DA7; Dutch-K.. [+] trismus-pseudocamptodactyly syndrome; DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hecht-Beals syndrome; mouth, inability to completely open, and short finger-flexor tendons [-]	A distal arthrogryposis characterized by inability..[+] A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. [-]
oculoectodermal syndrome	Toriello-Lacassie-Droste syndrome; aplasia cutis c.. [+] Toriello-Lacassie-Droste syndrome; aplasia cutis congenita-epibulbar dermoids syndrome [-]	An ectodermal dysplasia characterized by epibulbar..[+] An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. [-]
oblique facial clefting 1	Tessier number 4 facial cleft	An orofacial cleft characterized by a congenital u..[+] An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. [-]
X-linked thrombocytopenia with beta-thalassemia	thrombocytopenia, platelet dysfunction, hemolysis,.. [+] thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; XLTT [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
46,XY sex reversal 8	TDD; male pseudohermaphroditism due to deficiency .. [+] TDD; male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase; SRXY8 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. [-]
otopalatodigital syndrome type 1	Taybi syndrome; OPD syndrome 1; OPD1; oto-palato-d.. [+] Taybi syndrome; OPD syndrome 1; OPD1; oto-palato-digital syndrome type 1; otopalatodigital syndrome type I; OPD I syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. [-]
Frank-Ter Haar syndrome	Ter Haar syndrome; autosomal recessive Melnick-Nee.. [+] Ter Haar syndrome; autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. [-]
congenital nongoitrous hypothyroidism 7	TRH resistance syndrome; central hypothyroidism du.. [+] TRH resistance syndrome; central hypothyroidism due to TRH receptor deficiency; CHNG7; resistance to thyrotropin-releasing hormone syndrome [-]	A congenital hypothyroidism characterized by norma..[+] A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. [-]

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