Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Frontometaphyseal dysplasia (C538064)
Child Nodes:
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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

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

1	HP:0001419	X-linked recessive inheritance
2	HP:0006466	Ankle flexion contracture
3	HP:0003779	Antegonial notching of mandible
4	HP:0004608	Anteriorly placed odontoid process
5	HP:0001166	Arachnodactyly
6	HP:0009768	Broad phalanges of the hand
7	HP:0100490	Camptodactyly of finger
8	HP:0000280	Coarse facial features
9	HP:0006665	Coat hanger sign of ribs
10	HP:0001648	Cor pulmonale
11	HP:0002673	Coxa valga
12	HP:0000684	Delayed eruption of teeth
13	HP:0000689	Dental malocclusion
14	HP:0000494	Downslanted palpebral fissures
15	HP:0002987	Elbow flexion contracture
16	HP:0002949	Fused cervical vertebrae
17	HP:0002857	Genu valgum
18	HP:0000218	High palate
19	HP:0001007	Hirsutism
20	HP:0000126	Hydronephrosis
21	HP:0000072	Hydroureter
22	HP:0000316	Hypertelorism
23	HP:0006440	Increased density of long bone diaphyses
24	HP:0001249	Intellectual disability
25	HP:0006380	Knee flexion contracture
26	HP:0002700	Large foramen magnum
27	HP:0001833	Long foot
28	HP:0006155	Long phalanx of finger
29	HP:0001634	Mitral valve prolapse
30	HP:0006207	Partial fusion of carpals
31	HP:0008097	Partial fusion of tarsals
32	HP:0006335	Persistence of primary teeth
33	HP:0000307	Pointed chin
34	HP:0000336	Prominent supraorbital ridges
35	HP:0003691	Scapular winging
36	HP:0002650	Scoliosis
37	HP:0001592	Selective tooth agenesis
38	HP:0000407	Sensorineural hearing impairment
39	HP:0000331	Short chin
40	HP:0003202	Skeletal muscle atrophy
41	HP:0010307	Stridor
42	HP:0000431	Wide nasal bridge
43	HP:0001239	Wrist flexion contracture

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
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