Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Developmental Disabilities (D002658)
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Dwarfism (D004392)
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Facies (D019066)
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Osteochondrodysplasias (D010009)
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Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)

       Child Nodes:



 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)
..expandChondrodysplasia Calcificans Metaphysealis (C565855)
..expandChondrodysplasia Punctata (D002806) Child13
..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 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, 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)
..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, 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 (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 Tarda, X-Linked (C562447)
..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, CTD
Term ID:2130
Name:Chondrodysplasia, Megarbane-Dagher-Melki Type
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002658|MESH:D004392|MESH:D010009|MESH:D019066
TreeNumbers:C05.116.099.343/C567644 |C05.116.099.708/C567644 |C16.131.077/C567644 |C16.320.240/C567644 |C19.297/C567644 |C23.550.291.812/C567644 |F03.550.362/C567644
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C567644
MeSH: C567644
OMIM: 613320;

Genes: PAM16;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000463Anteverted nares
3 HP:0001591Bell-shaped thorax
4 HP:0001640Cardiomegaly
5 HP:0002002Deep philtrum
6 HP:0002750Delayed skeletal maturation
7 HP:0005280Depressed nasal bridge
8 HP:0002007Frontal bossing
9 HP:0001263Global developmental delay
10 HP:0003175Hypoplastic ischia
11 HP:0008786Iliac crest serration
12 HP:0000239Large fontanelles
13 HP:0000369Low-set ears
14 HP:0003021Metaphyseal cupping
15 HP:0002983Micromelia
16 HP:0008551Microtia
17 HP:0008936Muscular hypotonia of the trunk
18 HP:0000774Narrow chest
19 HP:0011220Prominent forehead
20 HP:0002092Pulmonary arterial hypertension
21 HP:0000311Round face
22 HP:0004565Severe platyspondyly
23 HP:0003026Short long bone
24 HP:0000470Short neck
25 HP:0003196Short nose
26 HP:0000773Short ribs
27 HP:0004322Short stature
28 HP:0001518Small for gestational age
29 HP:0002657Spondylometaphyseal dysplasia
30 HP:0003177Squared iliac bones
31 HP:0002789Tachypnea
32 HP:0000445Wide nose
33 HP:0002645Wormian bones
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_016069.9(PAM16):c.226A>G (p.Asn76Asp)-1-Pathogenic786203989RCV000167551; NMedGen:C2750075,OMIM:613320,ORPHA:4019791643909864390986NM_016069.9:c.226A>GNP_057153.8:p.Asn76AspNC_000016.9:g.4390986T>COMIM Allelic Variant:614336.0001C2750075 613320 Chondrodysplasia, megarbane-dagher-melki type