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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Teebi hypertelorism syndrome 1
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Opitz GBBB syndrome type II; SPECC1L-related hyper..
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Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1
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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.
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IDH-mutant and 1p/19q-codeleted oligodendroglioma
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Oligodendroglioma, IDH-mutant and 1p/19q-codeleted..
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Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted
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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).
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wild-type amyloidosis
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Old age amyloidosis; Age related amyloidosis; ATTR..
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Old age amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis
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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.
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Harel-Yoon syndrome
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Ocular anomalies-axonal neuropathy-developmental d..
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Ocular anomalies-axonal neuropathy-developmental delay syndrome
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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.
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Schwartz-Jampel syndrome 1
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osteochondromuscular dystrophy; Aberfeld syndrome; ..
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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
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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.
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renal coloboma syndrome
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optic coloboma, vesicoureteral reflux and renal an..
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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
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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.
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Charcot-Marie-Tooth disease X-linked recessive 5
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optic atrophy, polyneuropathy, and deafness; Charc..
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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
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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.
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autosomal dominant osteopetrosis 1
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OPTA1; autosomal dominant osteopetrosis type 1
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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.
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autosomal dominant osteopetrosis 2
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OPTA2; osteopetrosis autosomal dominant type 2; Al..
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osteopetrosis autosomal dominant type 2; OPTA2; Albers-Schonberg osteopetrosis; autosomal dominant osteopetrosis type II; autosomal dominant Albers-Schonberg disease
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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.
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autosomal recessive osteopetrosis 5
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OPTB5; infantile malignant osteopetrosis 3
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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.
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autosomal recessive osteopetrosis 8
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OPTB8
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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.
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autosomal recessive osteopetrosis 3
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osteopetrosis with renal tubular acidosis; OPTB3; ..
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OPTB3; osteopetrosis with renal tubular acidosis; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease
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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.
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autosomal recessive osteopetrosis 1
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OPTB1; autosomal recessive Albers-Schonberg diseas..
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OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1
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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.
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autosomal recessive osteopetrosis 2
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OPTB2; osteoclast-poor osteopetrosis; mild autosom..
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osteoclast-poor osteopetrosis; OPTB2; mild autosomal recessive form osteopetrosis
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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.
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autosomal recessive osteopetrosis 4
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OPTB4; infantile malignant osteopetrosis 2
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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.
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autosomal recessive osteopetrosis 6
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OPTB6; autosomal recessive osteopetrosis intermedi..
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OPTB6; autosomal recessive osteopetrosis intermediate form
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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.
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autosomal recessive osteopetrosis 7
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osteopetrosis-hypogammaglobulinemia syndrome; oste..
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osteopetrosis-hypogammaglobulinemia syndrome; osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; autosomal recessive osteopetrosis type 7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
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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.
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brachydactyly type A6
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Osebold-Remondini syndrome; BDA6; brachymesophalan..
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Osebold-Remondini syndrome; BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities
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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.
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congenital bile acid synthesis defect 3
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oxysterol 7-alpha-hydroxylase deficiency; CBAS3
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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.
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postural orthostatic tachycardia syndrome
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orthostatic intolerance due to NET deficiency; orh..
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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
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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.
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uveal coloboma-cleft lip and palate-intellectual disability
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ocular coloboma with or without hearing impairment..
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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
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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.
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congenital leptin deficiency
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obesity due to congenital leptin deficiency; LEPD; ..
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obesity due to congenital leptin deficiency; LEPD; morbid obesity; leptin deficiency or dysfunction
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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.
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dominant optic atrophy plus syndrome
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optic atrophy with or without deafness, ophthalmop..
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optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; DOA+
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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.
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IVIC syndrome
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oculo-oto-radial syndrome; OORS; Oculootoradial sy..
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OORS; oculo-oto-radial syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Instituto Venezolano de Investigaciones Cientificas syndrome
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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.
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Kaufman oculocerebrofacial syndrome
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oculocerebrofacial syndrome, Kaufman type; blephar..
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oculocerebrofacial syndrome, Kaufman type; blepharophimosis ptosis intellectual disability syndrome; KOS
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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 compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
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linear nevus sebaceous syndrome
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organoid nevus syndrome; organoid nevus phakomatos..
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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
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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.
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bilateral optic nerve hypoplasia
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ONH; familial bilateral optic nerve hypoplasia; is..
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ONH; familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia
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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.
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gnathodiaphyseal dysplasia
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osteogenesis imperfecta, Levin type; osteogenesis ..
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osteogenesis imperfecta, Levin type; osteogenesis imperfecta with unusual skeletal lesions; GDD; gnathodiaphyseal sclerosis; Levin syndrome 2
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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.
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progressive osseous heteroplasia
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osteoma cutis; ectopic ossification familial type; ..
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osteoma cutis; ectopic ossification familial type; familial ectopic ossification; POH
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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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Buschke-Ollendorff syndrome
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osteopathia condensans disseminata; BOS; dermatofi..
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osteopathia condensans disseminata; BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; dermatoosteopoikilosis
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A syndrome characterized by multiple subcutaneous .. [+]
A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
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Behr syndrome
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optic atrophy, infantile hereditary, Behr complica..
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optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Abortive cerebellar ataxia (BEHRS); BEHRS
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A nervous system disease characterized by early-on.. [+]
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
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C syndrome
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Opitz trigonocephaly syndrome; OTCS; Opitz trigono..
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OTCS; Opitz trigonocephaly syndrome; Opitz trigonocephaly C syndrome; Opitz C trigonocephaly; trigonocephaly C syndrome
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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.
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congenital heart defects, hamartomas of tongue, and polysyndactyly
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Ostravik-Lindemann-Solberg syndrome; heart defect-..
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Ostravik-Lindemann-Solberg syndrome; heart defect-tongue hamartoma-polysyndactyly syndrome; CHDTHP
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A syndrome characterized by congenital heart defec.. [+]
A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.
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distal arthrogryposis type 5
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oculomelic amyoplasia; DA5; DAIIB; distal arthrogr..
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oculomelic amyoplasia; DA5; DAIIB; distal arthrogryposis with ophthalmoplegia; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; distal arthrogryposis type IIB
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A distal arthrogryposis characterized by distal ar.. [+]
A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
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primary hyperoxaluria type 1
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oxalosis I; alanine-glyoxylate aminotransferase de..
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oxalosis I; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine:pyruvate aminotransferase deficiency; glycolic aciduria; serine pyruvate aminotransferase deficiency
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A primary hyperoxaluria characterized by failure t.. [+]
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
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primary hyperoxaluria type 2
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oxalosis II; oxalosis IIglyoxylate reductase/hydro..
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oxalosis II; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency
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A primary hyperoxaluria characterized by elevated .. [+]
A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
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proprotein convertase 1/3 deficiency
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obesity with impaired prohormone processing; obesi..
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obesity with impaired prohormone processing; obesity due to prohormone convertase I deficiency; obesity and endocrinopathy due to impaired processing of prohormones; PCI deficiency
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A syndrome characterized by severe childhood obesi.. [+]
A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.
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Melnick-Needles syndrome
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osteodysplasty of Melnick and Needles; Melnick-Nee..
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osteodysplasty of Melnick and Needles; Melnick-Needles osteodysplasty; MNS
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An otopalatodigital syndrome spectrum disorder cha.. [+]
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
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syndromic microphthalmia 2
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oculofaciocardiodental syndrome; OFCD syndrome; ca..
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OFCD syndrome; oculofaciocardiodental syndrome; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; syndromic microphthalmia type 2; microphthalmia cataracts radiculomegaly and septal heart defects; ANOP2
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A syndromic microphthalmia characterized by dental.. [+]
A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.
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14 matches
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immunodeficiency 16
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OX40 deficiency; combined immunodeficiency due to ..
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OX40 deficiency; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; IMD16
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A combined T cell and B cell immunodeficiency char.. [+]
A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
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mutilating palmoplantar keratoderma with periorificial keratotic plaques
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OLMS; Olmsted syndrome; mutilating palmoplantar hy..
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Olmsted syndrome; OLMS; mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; palmoplantar and periorificial keratoderma
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A keratosis characterized by a bilateral mutilatin.. [+]
A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.
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X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
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OLMSX; X-linked Olmsted syndrome
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A mutilating palmoplantar keratoderma with periori.. [+]
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.
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autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
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OLMS1; Olmsted syndrome 1; autosomal dominant Olms..
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Olmsted syndrome 1; OLMS1; autosomal dominant Olmsted syndrome
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A mutilating palmoplantar keratoderma with periori.. [+]
A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.
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terminal osseous dysplasia
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ODPD; ODPF syndrome; digital osseous dysplasia wit..
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ODPF syndrome; ODPD; digital osseous dysplasia with facial pigmentary defects and multiple frenula; terminal osseous dysplasia-pigmentary defects syndrome; TOD; TODPD
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A syndrome characterized by skeletal dysplasia of .. [+]
A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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optic atrophy-intellectual disability syndrome; BB..
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optic atrophy-intellectual disability syndrome; BBSOAS
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A syndrome characterized by delayed development, m.. [+]
A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
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