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Disease	Synonyms	Description	Articles
3MC syndrome	oculopalatoskeletal syndrome; craniofacial-ulnar-r.. [+] oculopalatoskeletal syndrome; craniofacial-ulnar-renal syndrome [-]	A syndrome characterized by blepharophimosis, blep..[+] A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [-]
Bruck syndrome	osteogenesis imperfecta with congenital joint cont.. [+] osteogenesis imperfecta with congenital joint contractures [-]	A syndrome characterized by a combination of multi..[+] A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [-]
agnathia-otocephaly complex	otocephaly; dysgnathia complex agnathia-holoprosen.. [+] otocephaly; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; agnathia-holoprosencephaly-situs inversus syndrome [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
Joubert syndrome with orofaciodigital defect	OFD6; orofaciodigital syndrome VI; Varadi-Papp syn.. [+] orofaciodigital syndrome VI; OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
acrofacial dysostosis, Catania type	Opitz-Caltabiano syndrome; Opitz Mollica Sorge syn.. [+] Opitz-Caltabiano syndrome; Opitz Mollica Sorge syndrome [-]	An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. [-]
Feingold syndrome	ODED syndrome; oculo-digito-esophageal-duodenal sy.. [+] ODED syndrome; oculo-digito-esophageal-duodenal syndrome; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
rainbow trout allergy	Oncorhynchus mykiss allergy	A fish allergy triggered by Oncorhynchus mykiss.
microcephalic osteodysplastic primordial dwarfism type I	osteodysplastic primordial dwarfism type I; brachy.. [+] osteodysplastic primordial dwarfism type I; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; 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
microcephalic osteodysplastic primordial dwarfism type II	osteodysplastic primordial dwarfism type II; Majew.. [+] osteodysplastic primordial dwarfism type II; Majewski osteodysplastic primordial dwarfism type II [-]	An osteochondrodysplasia that is a form of microce..[+] An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [-]	2 articles
congenital central hypoventilation syndrome	Ondine curse; Ondine syndrome; CCHS; central conge.. [+] Ondine syndrome; Ondine curse; CCHS; central congenital hypoventilation syndrome; congenital central alveolar hypoventilation syndrome [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. [-]
Duane-radial ray syndrome	Okihiro syndrome; acrorenocular syndrome; DR syndr.. [+] Okihiro syndrome; acrorenocular syndrome; DR syndrome; Duane anomaly with radial ray abnormalities and deafness [-]	A syndrome characterized by upper limb anomalies, ..[+] A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. [-]
familial temporal lobe epilepsy 4	occipitotemporal lobe epilepsy and migraine with a.. [+] occipitotemporal lobe epilepsy and migraine with aura; EPOLM; ETL4 [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
microphthalmia with limb anomalies	OAS; ophthalmoacromelic syndrome; Waardenburg anop.. [+] ophthalmoacromelic syndrome; OAS; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome; MLA [-]	A syndrome that is characterized by autosomal rece..[+] A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. [-]
leukoencephalopathy with vanishing white matter	ovarioleukodystrophy; CACH; childhood ataxia with .. [+] ovarioleukodystrophy; CACH; childhood ataxia with central nervous system hypomyelination; CLE; vanishing white matter leukodystrophy; Cree leukoencephalopathy; CACH/VWM [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]
prune belly syndrome	Obrisnksy syndrome; abdominal muscle deficiency sy.. [+] Obrisnksy syndrome; abdominal muscle deficiency syndrome; Eagle-Barret 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. [-]
spermatogenic failure 1	oligosynaptic infertility; oligochiasmatic inferti.. [+] oligosynaptic infertility; oligochiasmatic infertility; SPGF1 [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. [-]
CSF1R-related brain malformation and osteopetrosis	osteoporosis and infantile neuroaxonal dystrophy	A neuroaxonal dystrophy that has_material_basis_in..[+] A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. [-]
progressive leukoencephalopathy with ovarian failure	ovarioleukodystrophy	An leukodystrophy characterized by loss of motor a..[+] An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. [-]
foveal hypoplasia 1	O'Donnell-Pappas syndrome; foveal hypoplasia 1 wit.. [+] O'Donnell-Pappas syndrome; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia-presenile cataract syndrome; FVH1 [-]	A retinal disease characterized by foveal hypoplas..[+] A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
mitochondrial DNA depletion syndrome 7	OHAHA SYNDROME; infantile onset spinocerebellar at.. [+] OHAHA SYNDROME; infantile onset spinocerebellar ataxia [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. [-]
Marinesco-Sjogren syndrome	Oligophrenic cerebellolenticular degeneration; Gar.. [+] Oligophrenic cerebellolenticular degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
Teebi hypertelorism syndrome 1	Opitz GBBB syndrome type II; SPECC1L-related hyper.. [+] Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1 [-]	A Teebi hypertelorism syndrome that has_material_b..[+] A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. [-]
IDH-mutant and 1p/19q-codeleted oligodendroglioma	Oligodendroglioma, IDH-mutant and 1p/19q-codeleted.. [+] Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted [-]	An anaplastic oligodendroglioma that has_material_..[+] An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). [-]
wild-type amyloidosis	Old age amyloidosis; Age related amyloidosis; ATTR.. [+] Old age amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis [-]	An amyloidosis that is characterized by progressiv..[+] An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. [-]
Harel-Yoon syndrome	Ocular anomalies-axonal neuropathy-developmental d.. [+] Ocular anomalies-axonal neuropathy-developmental delay syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. [-]
Schwartz-Jampel syndrome 1	osteochondromuscular dystrophy; Aberfeld syndrome; .. [+] osteochondromuscular dystrophy; Aberfeld syndrome; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel-Aberfeld syndrome; Burton skeletal dysplasia; Schwartz-Jampel syndrome type 1 [-]	A syndrome characterized by neuromyotonia and chon..[+] A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
renal coloboma syndrome	optic coloboma, vesicoureteral reflux and renal an.. [+] optic coloboma, vesicoureteral reflux and renal anomalies; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities; papillo-renal syndrome, optic nerve coloboma with renal disease; coloboma of optic nerve with renal disease [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	optic atrophy, polyneuropathy, and deafness; Charc.. [+] optic atrophy, polyneuropathy, and deafness; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; X-linked Charcot-Marie-Tooth disease type 5; CMTX5; Rosenberg-Chutorian syndrome [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
autosomal dominant osteopetrosis 1	OPTA1; autosomal dominant osteopetrosis type 1	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	OPTA2; osteopetrosis autosomal dominant type 2; Al.. [+] osteopetrosis autosomal dominant type 2; OPTA2; Albers-Schonberg osteopetrosis; autosomal dominant osteopetrosis type II; autosomal dominant Albers-Schonberg disease [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 5	OPTB5; infantile malignant osteopetrosis 3	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 8	OPTB8	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. [-]
autosomal recessive osteopetrosis 3	osteopetrosis with renal tubular acidosis; OPTB3; .. [+] OPTB3; osteopetrosis with renal tubular acidosis; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 1	OPTB1; autosomal recessive Albers-Schonberg diseas.. [+] OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 2	OPTB2; osteoclast-poor osteopetrosis; mild autosom.. [+] osteoclast-poor osteopetrosis; OPTB2; mild autosomal recessive form osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
autosomal recessive osteopetrosis 4	OPTB4; infantile malignant osteopetrosis 2	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 6	OPTB6; autosomal recessive osteopetrosis intermedi.. [+] OPTB6; autosomal recessive osteopetrosis intermediate form [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. [-]
autosomal recessive osteopetrosis 7	osteopetrosis-hypogammaglobulinemia syndrome; oste.. [+] osteopetrosis-hypogammaglobulinemia syndrome; osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; autosomal recessive osteopetrosis type 7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. [-]
brachydactyly type A6	Osebold-Remondini syndrome; BDA6; brachymesophalan.. [+] Osebold-Remondini syndrome; BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
congenital bile acid synthesis defect 3	oxysterol 7-alpha-hydroxylase deficiency; CBAS3	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. [-]
postural orthostatic tachycardia syndrome	orthostatic intolerance due to NET deficiency; orh.. [+] orthostatic intolerance due to NET deficiency; orhtostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
uveal coloboma-cleft lip and palate-intellectual disability	ocular coloboma with or without hearing impairment.. [+] ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation; COB1; coloboma-microphthalmos syndrome; Uveal coloboma-cleft lip/palate-mental retardation syndrome; coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate [-]	A syndrome characterized by uveal coloboma and var..[+] A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. [-]
congenital leptin deficiency	obesity due to congenital leptin deficiency; LEPD; .. [+] obesity due to congenital leptin deficiency; LEPD; morbid obesity; leptin deficiency or dysfunction [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
dominant optic atrophy plus syndrome	optic atrophy with or without deafness, ophthalmop.. [+] optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; DOA+ [-]	A syndrome characterized by visual loss and sensor..[+] A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
IVIC syndrome	oculo-oto-radial syndrome; OORS; Oculootoradial sy.. [+] OORS; oculo-oto-radial syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Instituto Venezolano de Investigaciones Cientificas syndrome [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
Kaufman oculocerebrofacial syndrome	oculocerebrofacial syndrome, Kaufman type; blephar.. [+] oculocerebrofacial syndrome, Kaufman type; blepharophimosis ptosis intellectual disability syndrome; KOS [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. [-]
linear nevus sebaceous syndrome	organoid nevus syndrome; organoid nevus phakomatos.. [+] organoid nevus syndrome; organoid nevus phakomatosis; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; nevus sebaceus of Jadassohn; JNP; Schimmelpenning Feuerstein Mims syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
bilateral optic nerve hypoplasia	ONH; familial bilateral optic nerve hypoplasia; is.. [+] ONH; familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia [-]	An optic nerve disease characterized by isolated o..[+] An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
gnathodiaphyseal dysplasia	osteogenesis imperfecta, Levin type; osteogenesis .. [+] osteogenesis imperfecta, Levin type; osteogenesis imperfecta with unusual skeletal lesions; GDD; gnathodiaphyseal sclerosis; Levin syndrome 2 [-]	An osteochondrodysplasia characterized by cementoo..[+] An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. [-]
progressive osseous heteroplasia	osteoma cutis; ectopic ossification familial type; .. [+] osteoma cutis; ectopic ossification familial type; familial ectopic ossification; POH [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]

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