MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Genetic Diseases, Inborn (D030342)
Parent Node:
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Osteochondrodysplasias (D010009)
..Starting node
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Camurati-Engelmann Syndrome (D003966)

       Child Nodes:
........expandCamurati Engelmann disease, type 2 (C537978)
........expandCamurati-Engelmann Disease, Type II (C564689)
........expandRibbing disease (C537613)



 Sister Nodes: 
..expandAchondrogenesis (C579878)
..expandAchondroplasia (D000130) Child21
..expandAcquired Hyperostosis Syndrome (D020083)
..expandAcrodysostosis (C538179)
..expandAcrodysplasia scoliosis (C538180)
..expandAcrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..expandAcromesomelic dysplasia (C535658) Child1
..expandAcromesomelic dysplasia Campailla-Martinelli type (C535659)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAkaba Hayasaka syndrome (C535609)
..expandAnauxetic dysplasia (C538256)
..expandAtelosteogenesis type 2 (C535395)
..expandAtelosteogenesis Type 3 (C579928)
..expandAtelosteogenesis, type 1 (C535396)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandAuriculoosteodysplasia (C538271)
..expandBoomerang dysplasia (C536573)
..expandBrachyolmia (C537098)
..expandBrachyolmia Type 2 (C563218)
..expandBrachyolmia Type 3 (C562963)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCamurati-Engelmann Syndrome (D003966) Child4
..expandCantu syndrome (C535572)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandChondrodysplasia Calcificans Metaphysealis (C565855)
..expandChondrodysplasia Punctata (D002806) Child13
..expandCHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..expandCHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..expandChondrodysplasia, blomstrand type (C537914)
..expandChondrodysplasia, Grebe type (C537915)
..expandChondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCleidocranial Dysplasia (D002973) Child5
..expandCleidorhizomelic syndrome (C536428)
..expandCloverleaf skull micromelia thoracic dysplasia (C536429)
..expandCODAS syndrome (C536434)
..expandCollagenopathy, type 2 alpha 1 (C535964)
..expandColoboma of Alar-nasal cartilages with telecanthus (C535967)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCraniodiaphyseal Dysplasia (C562940)
..expandCraniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..expandCzech dysplasia, metatarsal type (C535766)
..expandDyggve-Melchior-Clausen syndrome (C535726)
..expandDyschondrosteosis and Nephritis (C565080)
..expandEiken Skeletal Dysplasia (C564010)
..expandEllis-Van Creveld Syndrome (D004613) Child6
..expandEnchondromatosis (D004687)
..expandEPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Baumann Type (C563664)
..expandEpiphyseal dysplasia, multiple, 1 (C535501)
..expandEpiphyseal dysplasia, multiple, 2 (C535502)
..expandEpiphyseal dysplasia, multiple, 3 (C535503)
..expandEpiphyseal dysplasia, multiple, 4 (C535504)
..expandEpiphyseal dysplasia, multiple, 5 (C535505)
..expandEPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
..expandEpiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandEpiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..expandFairbank disease (C536393)
..expandFaye-Petersen Ward Carey syndrome (C537076)
..expandFibrous Dysplasia of Bone (D005357) Child9
..expandFraser Jequier Chen syndrome (C535481)
..expandFrontometaphyseal dysplasia (C538064)
..expandFrontootopalatodigital Osteodysplasia (C567578)
..expandGhosal Hematodiaphyseal Dysplasia (C565551)
..expandHEM dysplasia (C535858) Child1
..expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..expandHip Dysplasia, Beukes Type (C564185)
..expandHyperostosis Frontalis Interna (D006957) Child1
..expandHyperostosis, Cortical, Congenital (D006958) Child6
..expandHypochondrogenesis (C563007)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandIMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandJansen type metaphyseal chondrodysplasia (C537564)
..expandJequier Kozlowski skeletal dysplasia (C537569)
..expandKashin-Beck Disease (D057767)
..expandKniest dysplasia (C537207)
..expandKniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..expandKozlowski Tsuruta Taki syndrome (C537510)
..expandLanger mesomelic dysplasia (C537267)
..expandLanger-Giedion Syndrome (D015826) Child2
..expandLaplane Fontaine Lagardere syndrome (C537869)
..expandLarsen Syndrome (C580241)
..expandLarsen syndrome, dominant type (C537873)
..expandLarsen-Like Syndrome (C563914)
..expandLeri-Weil syndrome (C537119)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLowry Wood syndrome (C537038)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMadelung Deformity (C562398)
..expandMarshall syndrome (C536025)
..expandMegaepiphyseal dwarfism (C536140) Child1
..expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..expandMesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..expandMesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..expandMesomelic Dysplasia, Savarirayan Type (C565349)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMetaphyseal chondrodysplasia Schmid type (C537352)
..expandMetaphyseal chondrodysplasia Spahr type (C537353)
..expandMetaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMetaphyseal Chondrodysplasia, Kaitila Type (C565400)
..expandMetaphyseal Chondrodysplasia, Pena Type (C565399)
..expandMetaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..expandMetaphyseal Dysplasia without Hypotrichosis (C563574)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandMetaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..expandMetaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..expandMetatropic dwarfism (C537356)
..expandMetatropic Dwarfism, Type II (C581628)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicromelic dwarfism Fryns type (C537556)
..expandMicromelic dysplasia, congenital, with dislocation of radius (C537557)
..expandMultiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandNievergelt syndrome (C536120)
..expandNivelon Nivelon Mabille syndrome (C536123)
..expandOmodysplasia 2 (C567664)
..expandOmodysplasia type 1 (C537746)
..expandOpsismodysplasia (C537122)
..expandOsebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..expandOsteoarthritis with Mild Chondrodysplasia (C565740)
..expandOSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandOsteochondroma (D015831) Child17
..expandOsteodysplasia, Familial, Anderson Type (C564923)
..expandOsteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..expandOsteogenesis Imperfecta (D010013) Child27
..expandOsteoglophonic dwarfism (C536050)
..expandOsteosclerosis (D010026) Child36
..expandOto-Palato-digital syndrome type 1 (C536065)
..expandOto-palato-digital syndrome, type 2 (C538089)
..expandOtopalatodigital Spectrum Disorder (C567577)
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPelvis-Shoulder Dysplasia (C566811)
..expandPierre Robin syndrome with fetal chondrodysplasia (C535776)
..expandPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..expandPolydysspondyly (C565150)
..expandPubic Bone Dysplasia (C566735)
..expandPycnodysostosis (D058631)
..expandPyle disease (C536252)
..expandRoifman syndrome (C535866)
..expandSchaefer Stein Oshman syndrome (C536627)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSchneckenbecken dysplasia (C536637)
..expandShort Rib-Polydactyly Syndrome (D012779) Child3
..expandShort stature syndrome, Brussels type (C537121)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandSketetal dysplasia coarse facies mental retardation (C536671)
..expandSlipped Capital Femoral Epiphyses (D060048)
..expandSmith-McCort Dysplasia (C564589)
..expandSpinal Dysplasia, Anhalt Type (C563348)
..expandSpondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..expandSpondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..expandSpondylodysplasia And Premature Pubarche (C567552)
..expandSpondyloenchondrodysplasia (C535782)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandSpondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..expandSpondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..expandSpondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandSpondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..expandSpondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..expandSpondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..expandSpondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..expandSpondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..expandSpondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..expandSpondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..expandSpondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..expandSpondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..expandSpondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSpondyloepiphyseal dysplasia, congenita (C535788)
..expandSpondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..expandSPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandSpondyloepiphyseal dysplasia, Omani type (C535789) Child1
..expandSpondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..expandSpondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..expandSpondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandSpondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..expandSpondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..expandSpondylometaphyseal dysplasia, Algerian type (C535794)
..expandSpondylometaphyseal dysplasia, axial (C535795)
..expandSpondylometaphyseal dysplasia, east-African type (C535796)
..expandSpondylometaphyseal dysplasia, Kozlowski type (C535797)
..expandSpondylometaphyseal dysplasia, Sedaghatian type (C535798)
..expandSpondylometaphyseal Dysplasia, Type A4 (C563803)
..expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandSPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..expandSpondyloperipheral dysplasia short ulna (C535799)
..expandSpondylospinal Thoracic Dysostosis (C566622)
..expandStrudwick syndrome (C537501)
..expandStuve-Wiedemann syndrome (C537502)
..expandTeebi Naguib Al Awadi syndrome (C536949)
..expandTer Haar syndrome (C537274)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThoracolaryngopelvic dysplasia (C536517)
..expandTracheobronchopathia osteoplastica (C536977)
..expandTrichoscyphodysplasia (C536557)
..expandUlna metaphyseal dysplasia syndrome (C536935)
..expandUpington disease (C536472)
..expandVan Buchem disease type 2 (C536527)
..expandVerloes Bourguignon syndrome (C536538)
..expandVerloes Van Maldergem Marneffe syndrome (C536540)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandWolcott-Rallison syndrome (C536739)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1723
Name:Camurati-Engelmann Syndrome
Definition:An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Alternative IDs:DO:DOID:4997|OMIM:131300
ParentIDs:MESH:D010009|MESH:D030342
TreeNumbers:C05.116.099.708.180 |C16.320.144
Synonyms:CAEND |Camurati Engelmann Disease |Camurati-Engelmann Disease |Camurati Engelmann Syndrome |CED |Diaphyseal Dysplasia 1, Progressive |Diaphyseal Dysplasia, Progressive |Diaphyseal Dysplasias, Progressive |Diaphyseal Hyperostoses |Diaphyseal Hyperostosis |DPD1 |Dysp
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: D003966
MeSH: D003966
OMIM: 131300;
MSeqDR LSDB:  
Genes: TCAP; TGFB1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003621Juvenile onset
3 HP:0001903AnemiaHP:0040283
4 HP:0005528Bone marrow hypocellularity
5 HP:0000670Carious teeth
6 HP:0005791Cortical thickening of long bone diaphyses
7 HP:0000823Delayed puberty
NAMDC:  Prolonged pubertal growth spurt
8 HP:0003034Diaphyseal sclerosis
9 HP:0000651Diplopia
10 HP:0003388Easy fatigability
11 HP:0002857Genu valgum
12 HP:0002315Headache
NAMDC:  Headaches non-migraine
13 HP:0000365Hearing impairment
14 HP:0009763Limb pain
15 HP:0000303Mandibular prognathia Adult onset
16 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
17 HP:0007807Optic nerve compression
18 HP:0004396Poor appetite
19 HP:0000520Proptosis Adult onset
20 HP:0003758Reduced subcutaneous adipose tissue
21 HP:0002694Sclerosis of skull base
22 HP:0002650Scoliosis
23 HP:0003202Skeletal muscle atrophy
24 HP:0001533Slender build
25 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000660.7(TGFB1):c.861-20C>T7040TGFB1Benignrs8179181RCV000247364|RCV001515199|RCV001838562|RCV001838563; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213, Orphanet:565788194183820641838206GANC_000019.9:g.41838206G>AClinGen:CA9459966CN169374 not specified;
NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg)7040TGFB1Uncertain significancers1454205854RCV000990218; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194184807541848075CT19:g.41848075C>T-
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)7040TGFB1Pathogenicrs104894719RCV000013354; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194184811441848114AG19:g.41848114A>GClinGen:CA341194,OMIM:190180.0001C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)7040TGFB1Pathogenicrs104894722RCV000013356; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194184812041848120AC19:g.41848120A>CClinGen:CA341198,OMIM:190180.0006C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)7040TGFB1Pathogenicrs104894722RCV000013359; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194184812041848120AG19:g.41848120A>GClinGen:CA341204,OMIM:190180.0005C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.664C>G (p.His222Asp)7040TGFB1Pathogenicrs281865485RCV000032150; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194184812341848123GC19:g.41848123G>CClinGen:CA308569649C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)7040TGFB1Pathogenicrs104894720RCV000013355|RCV001851823; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328|MedGen:CN517202194184813441848134CT19:g.41848134C>TClinGen:CA341196,OMIM:190180.0002C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)7040TGFB1Pathogenicrs104894721RCV000013357|RCV001794443; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328|MedGen:CN517202194184813541848135GA19:g.41848135G>AClinGen:CA341200,OMIM:190180.0003C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg)7040TGFB1Uncertain significancers1568478752RCV000785060; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194185075141850751AG19:g.41850751A>G-
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)7040TGFB1Likely pathogenicrs1599893542RCV000990219; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194185420441854204TC19:g.41854204T>C-
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)7040TGFB1Pathogenicrs111033611RCV000013358; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328194185870941858709AG19:g.41858709A>GClinGen:CA341202,OMIM:190180.0004C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup)7040TGFB1Uncertain significancers281865483RCV000032142|RCV001852637; NHuman Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:1328|MedGen:CN517202194185891141858912TTAGCAGCAGC19:g.41858911_41858912insAGCAGCAGCClinGen:CA308518766C0011989 131300 Diaphyseal dysplasia;
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)7040TGFB1Benignrs1800470RCV000013360|RCV000013361|RCV000242872|RCV001838526|RCV001516678|RCV001838525; NMONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700, Orphanet:586||MedGen:CN169374|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213, Orphanet:565788|MedGen:CN517202|Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300, Orphanet:13194185892141858921GA19:g.41858921G>AClinGen:CA122449,OMIM:190180.0007C0010674 219700 Cystic fibrosis;
MSeqDR Portal