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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: Joint Instability (D007593)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
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:

10590

Name:

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Definition:

Alternative IDs:

ParentIDs:

MESH:D007593|MESH:D010009

TreeNumbers:

C05.116.099.708/C562968 |C05.550.521/C562968

Synonyms:

SEMDJL

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C562968
MeSH: C562968
OMIM: 271640;

Genes: B3GALT6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000878	11 pairs of ribs
3	HP:0004233	Advanced ossification of carpal bones
4	HP:0001631	Atrial septal defect
5	HP:0001647	Bicuspid aortic valve
6	HP:0000592	Blue sclerae
7	HP:0009836	Broad distal phalanx of finger
8	HP:0009702	Carpal synostosis	HP:0040283
9	HP:0000175	Cleft palate	HP:0040284
10	HP:0002673	Coxa valga
11	HP:0000887	Cupped ribs
12	HP:0004325	Decreased body weight
13	HP:0008828	Delayed proximal femoral epiphyseal ossification
14	HP:0003083	Dislocated radial head
15	HP:0001083	Ectopia lentis
16	HP:0002869	Flared iliac wing
17	HP:0003015	Flared metaphysis
18	HP:0000904	Flaring of rib cage
19	HP:0012368	Flat face
20	HP:0001371	Flexion contracture
21	HP:0001030	Fragile skin
22	HP:0001290	Generalized hypotonia
23	HP:0002857	Genu valgum	HP:0040284
24	HP:0001822	Hallux valgus
25	HP:0000218	High palate	HP:0040284
26	HP:0002827	Hip dislocation
27	HP:0030043	Hip subluxation
28	HP:0000974	Hyperextensible skin
29	HP:0008824	Hypoplastic iliac body
30	HP:0001252	Hypotonia
31	HP:0003301	Irregular vertebral endplates
32	HP:0001388	Joint laxity
33	HP:0002751	Kyphoscoliosis
34	HP:0008818	Large iliac wing
35	HP:0000343	Long philtrum
36	HP:0011341	Long upper lip
37	HP:0000272	Malar flattening
38	HP:0003016	Metaphyseal widening
39	HP:0001840	Metatarsus adductus
40	HP:0000347	Micrognathia
41	HP:0011800	Midface retrusion
42	HP:0001653	Mitral regurgitation
43	HP:0000545	Myopia
44	HP:0008012	obsolete Congenital myopia
45	HP:0000939	Osteoporosis
46	HP:0000300	Oval face
47	HP:0003300	Ovoid vertebral bodies
48	HP:0010550	Paraplegia
49	HP:0002756	Pathologic fracture
50	HP:0001763	Pes planus
51	HP:0000926	Platyspondyly
52	HP:0011220	Prominent forehead
53	HP:0000520	Proptosis
54	HP:0002986	Radial bowing
55	HP:0003048	Radial head subluxation
56	HP:0003510	Severe short stature
57	HP:0100864	Short femoral neck
58	HP:0003026	Short long bone
59	HP:0010049	Short metacarpal
60	HP:0001799	Short nail
61	HP:0000470	Short neck
62	HP:0003100	Slender long bone
63	HP:0001027	Soft, doughy skin
64	HP:0002209	Sparse scalp hair
65	HP:0002176	Spinal cord compression
66	HP:0002651	Spondyloepimetaphyseal dysplasia
67	HP:0001762	Talipes equinovarus
68	HP:0001629	Ventricular septal defect

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_080605.3(B3GALT6):c.1A>G (p.Met1Val)	126792	B3GALT6	Pathogenic	786200938	RCV000054390;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1167659	1167659	NM_080605.3:c.1A>G	NP_542172.2:p.Met1Val	NC_000001.10:g.1167659A>G	OMIM Allelic Variant:615291.0001	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity
NM_080605.3(B3GALT6):c.193A>G (p.Ser65Gly)	126792	B3GALT6	Pathogenic	397514719	RCV000054394;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1167851	1167851	NM_080605.3:c.193A>G	NP_542172.2:p.Ser65Gly	NC_000001.10:g.1167851A>G	OMIM Allelic Variant:615291.0005	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity
NM_080605.3(B3GALT6):c.200C>T (p.Pro67Leu)	126792	B3GALT6	Pathogenic	397514720	RCV000054395;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1167858	1167858	NM_080605.3:c.200C>T	NP_542172.2:p.Pro67Leu	NC_000001.10:g.1167858C>T	OMIM Allelic Variant:615291.0006	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity
NM_080605.3(B3GALT6):c.466G>A (p.Asp156Asn)	126792	B3GALT6	Pathogenic	397514718	RCV000054392;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1168124	1168124	NM_080605.3:c.466G>A	NP_542172.2:p.Asp156Asn	NC_000001.10:g.1168124G>A	OMIM Allelic Variant:615291.0003	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity
NM_080605.3(B3GALT6):c.694C>T (p.Arg232Cys)	126792	B3GALT6	Pathogenic	397514717	RCV000054391;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1168352	1168352	NM_080605.3:c.694C>T	NP_542172.2:p.Arg232Cys	NC_000001.10:g.1168352C>T	OMIM Allelic Variant:615291.0002	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity
NM_080605.3(B3GALT6):c.899G>C (p.Cys300Ser)	126792	B3GALT6	Pathogenic	786200939	RCV000054393;	N	MedGen:C0432243,OMIM:271640,ORPHA:93359,SNOMED CT:254100000	1	1168557	1168557	NM_080605.3:c.899G>C	NP_542172.2:p.Cys300Ser	NC_000001.10:g.1168557G>C	OMIM Allelic Variant:615291.0004	C1850840 254100 Muscular dystrophy, congenital, with rapid progression; C0432243 271640 Spondyloepimetaphyseal dysplasia with joint laxity