Disease Browser
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Parent Node: Bone Diseases, Metabolic (D001851) | Parent Node: Ossification, Heterotopic (D009999) | Parent Node: Skin Diseases, Genetic (D012873) | ..Starting node ..Osseous Heteroplasia, Progressive (C562735)
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Sister Nodes: | ..Actinic Prurigo (C566780)
| ..Albinism (D000417) 30
| ..Amyloidosis IX (C562643)
| ..Amyloidosis, Cutaneous Bullous (C562644)
| ..Amyloidosis, Primary Cutaneous (C562642)
| ..Annular Erythema (C562461)
| ..Arterial Tortuosity Syndrome (C565942)
| ..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
| ..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
| ..Buschke-Ollendorff syndrome (C537415)
| ..Collagenosis, Familial Reactive Perforating (C565687)
| ..Cutis Laxa (D003483) 17
| ..Darier Disease (D007644) 7
| ..Dermatitis, Atopic (D003876) 9
| ..dowling-degos disease (C562924)
| ..Dyschromatosis universalis hereditaria (C535730)
| ..Dyschromatosis Universalis Hereditaria 1 (C567273)
| ..Dyschromatosis Universalis Hereditaria 2 (C567194)
| ..Dyskeratosis Congenita (D019871) 3
| ..Ectodermal Dysplasia (D004476) 144
| ..Ehlers-Danlos Syndrome (D004535) 23
| ..Epidermolysis Bullosa (D004820) 29
| ..Erythrokeratodermia Variabilis (D056266) 3
| ..Erythrokeratodermia with ataxia (C535738)
| ..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
| ..Fingerprints, Absence of (C565010)
| ..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
| ..Gerodermia osteodysplastica (C537799)
| ..Hereditary Autoinflammatory Diseases (D056660) 10
| ..Histiocytic Dermatoarthritis (C564183)
| ..Hyalinosis, Systemic (D057770)
| ..Hyaluronan Metabolism, Defect in (C565742)
| ..Ichthyosiform Erythroderma, Congenital (D016113) 18
| ..Ichthyosis Bullosa of Siemens (D053560)
| ..Ichthyosis Vulgaris (D016112) 1
| ..Ichthyosis, X-Linked (D016114) 2
| ..Incontinentia Pigmenti (D007184) 2
| ..Juvenile Spring Eruption of Ears (C566781)
| ..Keratoderma, Palmoplantar (D007645) 45
| ..Keratolytic winter erythema (C536155)
| ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
| ..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
| ..Leukokeratosis, Hereditary Mucosal (D053529)
| ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
| ..Lipoid Proteinosis of Urbach and Wiethe (D008065)
| ..Monilethrix (D056734) 1
| ..Muir-Torre Syndrome (D055653)
| ..Netherton Syndrome (D056770)
| ..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
| ..Oculotrichodysplasia (C564934)
| ..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
| ..Orofaciodigital syndrome 9 (C557818)
| ..Osseous Heteroplasia, Progressive (C562735)
| ..Osteopoikilosis, Isolated (C563484)
| ..Parana Hard Skin Syndrome (C564905)
| ..Peeling Skin Syndrome (C564818)
| ..Pemphigus, Benign Familial (D016506)
| ..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
| ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
| ..Plasminogen Deficiency, Type I (C566897)
| ..Poikiloderma, Hereditary Sclerosing (C562824)
| ..Porokeratosis (D017499) 7
| ..Porphyria, Erythropoietic (D017092)
| ..Porphyrias, Hepatic (D017094) 14
| ..Prolidase Deficiency (D056732)
| ..Pseudoxanthoma Elasticum (D011561) 2
| ..Rothmund-Thomson Syndrome (D011038) 5
| ..Sjogren-Larsson Syndrome (D016111) 1
| ..Skin Fragility-Woolly Hair Syndrome (C564359)
| ..Stiff Skin Syndrome (C566112)
| ..Storm Syndrome (C566109)
| ..Trichothiodystrophy Syndromes (D054463) 5
| ..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
| ..Vohwinkel Syndrome, Variant Form (C565826)
| ..Xeroderma Pigmentosum (D014983) 16
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 8361 |
Name: | Osseous Heteroplasia, Progressive |
Definition: | |
Alternative IDs: | OMIM:166350 |
ParentIDs: | MESH:D001851|MESH:D009999|MESH:D012873 |
TreeNumbers: | C05.116.198/C562735 |C16.320.850/C562735 |C17.800.827/C562735 |C23.550.751/C562735 |
Synonyms: | Cutaneous Ossification |Ectopic Ossification, Familial |Osteodermia |Osteoma Cutis |Osteosis Cutis |POH |Progressive Osseous Heteroplasia |
Slim Mappings: | Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease |
Reference: |
MedGen: C562735
MeSH: C562735
OMIM: 166350;
Genes: GNAS; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001077488.3(GNAS):c.568_571delGACT (p.Asp190Metfs) | 2778 | GNAS | Pathogenic | 587776829 | RCV000017300; RCV000017302; RCV000017301; | N | MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C0033835,OMIM:612463,ORPHA:79445,SNOMED CT:237659007; MedGen:C0334041,OMIM:166350,ORPHA:2762 | 20 | 57484251 | 57484254 | NM_001077488.3:c.568_571delGACT | NP_001070956.1:p.Asp190Metfs | | OMIM Allelic Variant:139320.0011 | C0334041 166350 Progressive osseous heteroplasia; C0033806 103580 Pseudohypoparathyroidism type 1A; C0033835 612463 Pseudopseudohypoparathyroidism | | |
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