Disease Browser
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Parent Node: Osteochondrodysplasias (D010009) | ..Starting node ..Frontometaphyseal dysplasia (C538064)
| Child Nodes:
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Sister Nodes: | ..Achondrogenesis (C579878)
| ..Achondroplasia (D000130) 21
| ..Acquired Hyperostosis Syndrome (D020083)
| ..Acrodysostosis (C538179)
| ..Acrodysplasia scoliosis (C538180)
| ..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
| ..Acromesomelic dysplasia (C535658) 1
| ..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
| ..Acropectorovertebral Dysplasia, F-Form (C566319)
| ..Akaba Hayasaka syndrome (C535609)
| ..Anauxetic dysplasia (C538256)
| ..Atelosteogenesis type 2 (C535395)
| ..Atelosteogenesis Type 3 (C579928)
| ..Atelosteogenesis, type 1 (C535396)
| ..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
| ..Auriculoosteodysplasia (C538271)
| ..Boomerang dysplasia (C536573)
| ..Brachyolmia (C537098)
| ..Brachyolmia Type 2 (C563218)
| ..Brachyolmia Type 3 (C562963)
| ..Brachyolmia, recessive Hobaek type (C537099)
| ..Camurati-Engelmann Syndrome (D003966) 4
| ..Cantu syndrome (C535572)
| ..Cartilage hair hypoplasia like syndrome (C535915)
| ..Cartilage-hair hypoplasia (C535916)
| ..Chondrodysplasia Calcificans Metaphysealis (C565855)
| ..Chondrodysplasia Punctata (D002806) 13
| ..Chondrodysplasia, blomstrand type (C537914)
| ..Chondrodysplasia, Grebe type (C537915)
| ..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
| ..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
| ..Cleidocranial Dysplasia (D002973) 5
| ..Cleidorhizomelic syndrome (C536428)
| ..Cloverleaf skull micromelia thoracic dysplasia (C536429)
| ..CODAS syndrome (C536434)
| ..Collagenopathy, type 2 alpha 1 (C535964)
| ..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
| ..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
| ..Craniodiaphyseal Dysplasia (C562940)
| ..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
| ..Czech dysplasia, metatarsal type (C535766)
| ..Dyggve-Melchior-Clausen syndrome (C535726)
| ..Dyschondrosteosis and Nephritis (C565080)
| ..Eiken Skeletal Dysplasia (C564010)
| ..Ellis-Van Creveld Syndrome (D004613) 6
| ..Enchondromatosis (D004687)
| ..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
| ..Epiphyseal Dysplasia, Baumann Type (C563664)
| ..Epiphyseal dysplasia, multiple, 1 (C535501)
| ..Epiphyseal dysplasia, multiple, 2 (C535502)
| ..Epiphyseal dysplasia, multiple, 3 (C535503)
| ..Epiphyseal dysplasia, multiple, 4 (C535504)
| ..Epiphyseal dysplasia, multiple, 5 (C535505)
| ..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
| ..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
| ..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
| ..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
| ..Fairbank disease (C536393)
| ..Faye-Petersen Ward Carey syndrome (C537076)
| ..Fibrous Dysplasia of Bone (D005357) 9
| ..Fraser Jequier Chen syndrome (C535481)
| ..Frontometaphyseal dysplasia (C538064)
| ..Frontootopalatodigital Osteodysplasia (C567578)
| ..Ghosal Hematodiaphyseal Dysplasia (C565551)
| ..HEM dysplasia (C535858) 1
| ..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
| ..Hip Dysplasia, Beukes Type (C564185)
| ..Hyperostosis Frontalis Interna (D006957) 1
| ..Hyperostosis, Cortical, Congenital (D006958) 6
| ..Hypochondrogenesis (C563007)
| ..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
| ..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
| ..Jansen type metaphyseal chondrodysplasia (C537564)
| ..Jequier Kozlowski skeletal dysplasia (C537569)
| ..Kashin-Beck Disease (D057767)
| ..Kniest dysplasia (C537207)
| ..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
| ..Kozlowski Tsuruta Taki syndrome (C537510)
| ..Langer mesomelic dysplasia (C537267)
| ..Langer-Giedion Syndrome (D015826) 2
| ..Laplane Fontaine Lagardere syndrome (C537869)
| ..Larsen Syndrome (C580241)
| ..Larsen syndrome, dominant type (C537873)
| ..Larsen-Like Syndrome (C563914)
| ..Leri-Weil syndrome (C537119)
| ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
| ..Lowry Wood syndrome (C537038)
| ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
| ..Madelung Deformity (C562398)
| ..Marshall syndrome (C536025)
| ..Megaepiphyseal dwarfism (C536140) 1
| ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
| ..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
| ..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
| ..Mesomelic Dysplasia, Savarirayan Type (C565349)
| ..Metaphyseal anadysplasia (C537351)
| ..Metaphyseal Anadysplasia 1 (C567545)
| ..Metaphyseal Anadysplasia 2 (C567771)
| ..Metaphyseal chondrodysplasia Schmid type (C537352)
| ..Metaphyseal chondrodysplasia Spahr type (C537353)
| ..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
| ..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
| ..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
| ..Metaphyseal Chondrodysplasia, Pena Type (C565399)
| ..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
| ..Metaphyseal Dysplasia without Hypotrichosis (C563574)
| ..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
| ..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
| ..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
| ..Metatropic dwarfism (C537356)
| ..Metatropic Dwarfism, Type II (C581628)
| ..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
| ..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
| ..Microcephaly-Micromelia Syndrome (C565382)
| ..Micromelic dwarfism Fryns type (C537556)
| ..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
| ..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
| ..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
| ..Nievergelt syndrome (C536120)
| ..Nivelon Nivelon Mabille syndrome (C536123)
| ..Omodysplasia 2 (C567664)
| ..Omodysplasia type 1 (C537746)
| ..Opsismodysplasia (C537122)
| ..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
| ..Osteoarthritis with Mild Chondrodysplasia (C565740)
| ..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
| ..Osteochondroma (D015831) 17
| ..Osteodysplasia, Familial, Anderson Type (C564923)
| ..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
| ..Osteogenesis Imperfecta (D010013) 27
| ..Osteoglophonic dwarfism (C536050)
| ..Osteosclerosis (D010026) 36
| ..Oto-Palato-digital syndrome type 1 (C536065)
| ..Oto-palato-digital syndrome, type 2 (C538089)
| ..Otopalatodigital Spectrum Disorder (C567577)
| ..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
| ..Pelvis-Shoulder Dysplasia (C566811)
| ..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
| ..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
| ..Polydysspondyly (C565150)
| ..Pubic Bone Dysplasia (C566735)
| ..Pycnodysostosis (D058631)
| ..Pyle disease (C536252)
| ..Roifman syndrome (C535866)
| ..Schaefer Stein Oshman syndrome (C536627)
| ..Schimke immunoosseous dysplasia (C536629)
| ..Schneckenbecken dysplasia (C536637)
| ..Short Rib-Polydactyly Syndrome (D012779) 3
| ..Short stature syndrome, Brussels type (C537121)
| ..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
| ..Sketetal dysplasia coarse facies mental retardation (C536671)
| ..Slipped Capital Femoral Epiphyses (D060048)
| ..Smith-McCort Dysplasia (C564589)
| ..Spinal Dysplasia, Anhalt Type (C563348)
| ..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
| ..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
| ..Spondylodysplasia And Premature Pubarche (C567552)
| ..Spondyloenchondrodysplasia (C535782)
| ..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
| ..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
| ..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
| ..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
| ..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
| ..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
| ..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
| ..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
| ..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
| ..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
| ..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
| ..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
| ..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
| ..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
| ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
| ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
| ..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
| ..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
| ..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
| ..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
| ..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
| ..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
| ..Spondyloepiphyseal dysplasia, congenita (C535788)
| ..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
| ..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
| ..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
| ..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
| ..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
| ..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
| ..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
| ..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
| ..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
| ..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
| ..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
| ..Spondylometaphyseal dysplasia, Algerian type (C535794)
| ..Spondylometaphyseal dysplasia, axial (C535795)
| ..Spondylometaphyseal dysplasia, east-African type (C535796)
| ..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
| ..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
| ..Spondylometaphyseal Dysplasia, Type A4 (C563803)
| ..Spondylometaphyseal Dysplasia, X-Linked (C563124)
| ..Spondyloocular Syndrome, Autosomal Recessive (C565285)
| ..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
| ..Spondyloperipheral dysplasia short ulna (C535799)
| ..Spondylospinal Thoracic Dysostosis (C566622)
| ..Strudwick syndrome (C537501)
| ..Stuve-Wiedemann syndrome (C537502)
| ..Teebi Naguib Al Awadi syndrome (C536949)
| ..Ter Haar syndrome (C537274)
| ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
| ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
| ..Thoracolaryngopelvic dysplasia (C536517)
| ..Tracheobronchopathia osteoplastica (C536977)
| ..Trichoscyphodysplasia (C536557)
| ..Ulna metaphyseal dysplasia syndrome (C536935)
| ..Upington disease (C536472)
| ..Van Buchem disease type 2 (C536527)
| ..Verloes Bourguignon syndrome (C536538)
| ..Verloes Van Maldergem Marneffe syndrome (C536540)
| ..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
| ..Wolcott-Rallison syndrome (C536739)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 4428 |
Name: | Frontometaphyseal dysplasia |
Definition: | |
Alternative IDs: | OMIM:305620 |
ParentIDs: | MESH:D010009 |
TreeNumbers: | C05.116.099.708/C538064 |
Synonyms: | FMD |
Slim Mappings: | Musculoskeletal disease |
Reference: |
MedGen: C538064
MeSH: C538064
OMIM: 305620;
Genes: FLNA; | 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_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) | 2316 | FLNA | Uncertain significance | 864622713 | RCV000204164; | N | MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009 | X | 153579374 | 153579374 | NM_001456.3:c.7035T>G | NP_001447.2:p.Phe2345Leu | | - | C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia | | | NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) | 2316 | FLNA | Benign;Likely benign | 113510895 | RCV000079709; RCV000205572; | N | MedGen:C0025237,OMIM:309350,ORPHA:2484,SNOMED CT:13449007; MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002; MedGen:C1844696,OMIM:304120,ORPHA:90652,SNOMED CT:42432003; MedGen:C1848213,OMIM:300049,SNOMED CT:448227009; MedGen:CN169374 | X | 153580576 | 153580576 | NM_001110556.1:c.6742C>T | NP_001104026.1:p.Leu2248= | NC_000023.10:g.153580576G>A | - | C0265293 305620 Frontometaphyseal dysplasia; C0025237 309350 Melnick-Needles syndrome; CN169374 not specified; C1844696 304120 Oto-palato-digital syndrome, type II; C1848213 300049 X-linked periventricular heterotopia | | | NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) | 2316 | FLNA | Pathogenic | 137853312 | RCV000012527; | N | MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002 | X | 153588606 | 153588606 | NM_001110556.1:c.3557C>T | NP_001104026.1:p.Ser1186Leu | NC_000023.10:g.153588606G>A | OMIM Allelic Variant:300017.0015 | C0265293 305620 Frontometaphyseal dysplasia | | | NM_001110556.1(FLNA):c.3476A>C (p.Asp1159Ala) | 2316 | FLNA | Pathogenic | 28935471 | RCV000012523; | N | MedGen:C0265293,OMIM:305620,ORPHA:1826,SNOMED CT:62803002 | X | 153588687 | 153588687 | NM_001110556.1:c.3476A>C | NP_001104026.1:p.Asp1159Ala | NC_000023.10:g.153588687T>G | OMIM Allelic Variant:300017.0011 | C0265293 305620 Frontometaphyseal dysplasia | | |
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