Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEczema (D004485)
Parent Node:
expandFacies (D019066)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMicrocephaly (D008831)
..Starting node
..expandDubowitz syndrome (C535718)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAchalasia microcephaly (C536010)
..expandAgammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAmish lethal microcephaly (C538247)
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAphalangia syndactyly microcephaly (C537787)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAutosomal Recessive Primary Microcephaly (C579935)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandBaraitser Brett Piesowicz syndrome (C537905)
..expandBattaglia Neri syndrome (C537662)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Type A2, With Microcephaly (C565894)
..expandBranchial arch syndrome X-linked (C537102)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCAMFAK syndrome (C537965)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandChromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..expandChromosome 15q26-Qter Deletion Syndrome (C567232)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCK SYNDROME (OMIM:300831)
..expandCohen syndrome (C536438)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandDubowitz syndrome (C535718)
..expandEllis Yale Winter syndrome (C536205)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandExtrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..expandFilippi syndrome (C538152)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGalloway Mowat syndrome (C537548)
..expandGOMBO syndrome (C537284)
..expandGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandHadziselimovic Syndrome (C567850)
..expandHalal syndrome (C535622)
..expandHersh Podruch Weisskopk syndrome (C538114)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandHypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJorgenson Lenz syndrome (C536292)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandLambotte syndrome (C537549)
..expandLissencephaly 3 (C566908)
..expandLowry Wood syndrome (C537038)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandMacDermot Winter syndrome (C537714)
..expandMarfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..expandMEHMO syndrome (C537451)
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMicrocephaly albinism digital anomalies syndrome (C537322)
..expandMicrocephaly autosomal dominant (C537323)
..expandMicrocephaly cervical spine fusion anomalies (C537325)
..expandMicrocephaly deafness syndrome (C537326)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly nonsyndromal (C537542)
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMicrocephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMicrocephaly with Simplified Gyral Pattern (C566332)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrocephaly, Macrotia, And Mental Retardation (C566525)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMicrocephaly, Primary Autosomal Recessive, 1 (C565384)
..expandMicrocephaly, Primary Autosomal Recessive, 2 (C565794)
..expandMicrocephaly, Primary Autosomal Recessive, 3 (C565746)
..expandMicrocephaly, Primary Autosomal Recessive, 4 (C565792)
..expandMicrocephaly, Primary Autosomal Recessive, 5 (C563871)
..expandMicrocephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..expandMicrocephaly, Primary Autosomal Recessive, 6 (C564247)
..expandMicrocephaly, Primary Autosomal Recessive, 7 (C567198)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicrohydranencephaly (C537555)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMilner Khallouf Gibson syndrome (C537473)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMowat-Wilson syndrome (C536990)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandNeu Laxova syndrome (C536405)
..expandNijmegen Breakage Syndrome-Like Disorder (C567767)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandOculopalatocerebral Syndrome (C564935)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandPaine syndrome (C538101)
..expandPartington Anderson syndrome (C536299)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..expandPorencephaly (D065708) Child1
..expandRaine syndrome (C535282)
..expandRAJAB SYNDROME (OMIM:613658)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSay Barber Miller syndrome (C536618)
..expandSay syndrome (C536621)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSeemanova Lesny syndrome (C537536)
..expandSevere Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..expandSilengo Lerone Pelizza syndrome (C537336)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTeebi Kaurah syndrome (C536948)
..expandTrichodental syndrome (C536551)
..expandTsukahara Syndrome (C566376)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWinship Viljoen Leary syndrome (C536711)
..expandZerres Rietschel Majewski syndrome (C536724)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3471
Name:Dubowitz syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D004485|MESH:D006130|MESH:D008607|MESH:D008831|MESH:D019066
TreeNumbers:C05.660.207.620/C535718 |C10.500.507.400.500/C535718 |C10.597.606.643/C535718 |C16.131.621.207.620/C535718 |C16.131.666.507.400.500/C535718 |C17.800.174.620/C535718 |C17.800.815.620/C535718 |C23.550.291.812/C535718 |C23.550.393/C535718 |C23.888.592.604.646/C53571
Synonyms:Dwarfism-eczema-peculiar facies syndrome
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C535718
MeSH: C535718
OMIM: 223370;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006721Acute lymphoblastic leukemia
3 HP:0006349Agenesis of permanent teeth
4 HP:0001915Aplastic anemia
5 HP:0000581Blepharophimosis
6 HP:0000455Broad nasal tip
7 HP:0000670Carious teeth
8 HP:0002028Chronic diarrhea
9 HP:0004209Clinodactyly of the 5th finger
10 HP:0000028Cryptorchidism
11 HP:0002720Decreased circulating IgA level
12 HP:0004315Decreased circulating IgG level
13 HP:0000684Delayed eruption of teeth
14 HP:0002750Delayed skeletal maturation
15 HP:0000750Delayed speech and language development
16 HP:0000964Eczema
17 HP:0000286Epicanthus
18 HP:0002572Episodic vomiting
19 HP:0000324Facial asymmetry
20 HP:0008872Feeding difficulties in infancy
21 HP:0002020Gastroesophageal reflux
22 HP:0001290Generalized hypotonia
23 HP:0000348High forehead
24 HP:0000218High palate
25 HP:0001620High pitched voice
26 HP:0000752Hyperactivity
27 HP:0000540Hypermetropia
28 HP:0007676Hypoplasia of the iris
29 HP:0000047Hypospadias
30 HP:0001252Hypotonia
31 HP:0000023Inguinal hernia
32 HP:0001249Intellectual disabilityHP:0040284
33 HP:0001511Intrauterine growth retardation
34 HP:0000612Iris coloboma
35 HP:0000369Low-set ears
36 HP:0002665Lymphoma
37 HP:0000485Megalocornea
38 HP:0000252Microcephaly
39 HP:0000347Micrognathia
40 HP:0000568Microphthalmia
41 HP:0003006Neuroblastoma
42 HP:0000547obsolete Tapetoretinal degeneration
43 HP:0000388Otitis media
44 HP:0001763Pes planus
45 HP:0008897Postnatal growth retardation
46 HP:0000411Protruding ear
47 HP:0000508Ptosis
48 HP:0002719Recurrent infections
49 HP:0000960Sacral dimple
50 HP:0000736Short attention span
51 HP:0012745Short palpebral fissure
52 HP:0000340Sloping forehead
53 HP:0000274Small face
54 HP:0005338Sparse lateral eyebrow
55 HP:0002209Sparse scalp hair
56 HP:0000486Strabismus
57 HP:0000176Submucous cleft hard palate
58 HP:0000506Telecanthus
59 HP:0009891Underdeveloped supraorbital ridges
60 HP:0000220Velopharyngeal insufficiency
61 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants