About
News
Team
U24 Grant
Documentation
Tutorial
UMDF'17 Workshop
UMDF'17 Regional Symposia St Louis
UMDF'16 Workshop
UMDF'15 Workshop
SIMD'15 Workshop
Collaboration Zone
Book: Mitochondrial Disease Genes Compendium
Contact & Feedback
MSeqDR-LSDB
Genes View
Transcripts
Mitochondrial Disease
Genomic Variants
Add
Transcript Variants
LSDB Status
Advanced Users
Tools
Quick-Mitome for WES
Quick-Mitome
Quick-Mitome Report
mtDNA Tool:
mvTool
Phy-Mer
MToolBox
mvTool for Haplogroup
mvTool with HmtDB
MitoMaster
MitoTIP tRNA Scoring
MSeq-OpenCGA
Variant Tool:
VariantOneStop
HBCR Exome (Retired)
POLG Patho. Server
Data - Awsomics GeEx
Expert Panel
Panel Tool:
Gene Panel Examiner
Transgenomic_NuclearMitome
Pedigree Maker
json2table
Phenome-Disease
Disease Portal
Disease Portal in Mondo
HPO Ontology Browser
Leigh Syndrome Resource
Clinical_Portal
PMD Virtual Registry
Collaboration
Genesis (GEM.App)
LeighMap
Expert Panel
Collaboration Zone
--
Overview
--
Login
--
Register
--
MSeqDR_General
Submission
Submit_Interpret_Variant
Instructions
Hello! Guest! Please
Login
or
Register
!
Clinician Mode
Genomic Search
Disease: OMIM
Disease: HPO
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
Choose an Disease for the Annotations:
1 614739 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndro... HL:1 HPO:20 G:1 V: 2
2 100800 Achondroplasia... HL:1 HPO:51 G:1 V: 5
3 CN007581 Adult onset sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
4 612448 AGE-RELATED HEARING IMPAIRMENT 1... HL:1 HPO:0 G:0 V: 0
5 612976 AGE-RELATED HEARING IMPAIRMENT 2... HL:1 HPO:0 G:0 V: 0
6 300700 Albinism deafness syndrome... HL:1 HPO:13 G:0 V: 0
7 300650 Albinism ocular late onset sensorineural deafness... HL:1 HPO:12 G:0 V: 0
8 103470 Albinism, ocular, with sensorineural deafness... HL:1 HPO:14 G:0 V: 0
9 C1567741 Alport syndrome... HL:0 HPO:0 G:0 V: 0
10 301050 Alport syndrome, X-linked recessive... HL:1 HPO:18 G:2 V: 555
11 203800 Alstrom syndrome... HL:1 HPO:83 G:1 V: 6
12 CN184091 Aminoglycoside response... HL:0 HPO:0 G:0 V: 0
13 580000 Aminoglycoside-induced deafness... HL:1 HPO:1 G:2 V: 6
14 CN167701 Aminoglycoside-induced hearing loss... HL:0 HPO:0 G:0 V: 0
15 610001 Arthrogryposis multiplex with deafness, inguinal hernias, and early death... HL:1 HPO:0 G:0 V: 0
16 108200 Arthrogryposis-like hand anomaly and sensorineural deafness... HL:1 HPO:8 G:0 V: 0
17 301835 Arts syndrome... HL:1 HPO:36 G:1 V: 5
18 616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes melli... HL:1 HPO:0 G:1 V: 1
19 208750 Ataxia, deafness and cardiomyopathy... HL:1 HPO:6 G:0 V: 0
20 108760 Atresia of external auditory canal and conduction deafness... HL:1 HPO:6 G:0 V: 0
21 607554 Atrial fibrillation, familial, 3... HL:1 HPO:5 G:1 V: 5
22 CN230735 Audiologic phenotype and hearing loss... HL:0 HPO:0 G:0 V: 0
23 CN043167 Auditory neuropathy, autosomal recessive, 1... HL:0 HPO:0 G:0 V: 0
24 242150 Autosomal recessive keratitis-ichthyosis-deafness syndrome... HL:1 HPO:14 G:0 V: 0
25 180500 Axenfeld-Rieger syndrome type 1... HL:1 HPO:34 G:1 V: 6
26 602482 Axenfeld-Rieger syndrome type 3... HL:1 HPO:16 G:1 V: 6
27 614583 Baraitser-Winter Syndrome 2... HL:1 HPO:13 G:1 V: 7
28 602522 Bartter syndrome type 4... HL:1 HPO:29 G:1 V: 6
29 261515 Bifunctional peroxisomal enzyme deficiency... HL:1 HPO:56 G:1 V: 5
30 CN007494 Bilateral conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
31 CN007584 Bilateral sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
32 CN231094 Bilateral, progressive nonsyndromic sensorineural hearing loss... HL:0 HPO:0 G:0 V: 0
33 253260 Biotinidase deficiency... HL:1 HPO:40 G:0 V: 0
34 612394 Bone fragility with contractures, arterial rupture, and deafness... HL:1 HPO:30 G:1 V: 1
35 602561 Brachydactyly, intraventricular septal defect, and deafness... HL:1 HPO:0 G:0 V: 0
36 613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY, PTOSIS, HEA... HL:1 HPO:17 G:0 V: 0
37 609166 Branchiogenic-deafness syndrome... HL:1 HPO:25 G:0 V: 0
38 602588 Branchiootic syndrome... HL:1 HPO:14 G:1 V: 2
39 608389 Branchiootic syndrome 3... HL:1 HPO:4 G:1 V: 4
40 CN043574 Branchiootorenal Spectrum Disorders... HL:0 HPO:0 G:0 V: 0
41 610896 Branchiootorenal syndrome 2... HL:1 HPO:6 G:1 V: 4
42 610474 Camptodactyly, tall stature, and hearing loss syndrome... HL:1 HPO:14 G:1 V: 2
43 CN069290 Cardiomyopathy and Deafness... HL:0 HPO:0 G:1 V: 1
44 CN036924 Cardiomyopathy and deafness due to tRNA lysine gene mutation... HL:0 HPO:0 G:0 V: 0
45 212710 Cataract ataxia deafness... HL:1 HPO:20 G:0 V: 0
46 116400 Cataract, nuclear total... HL:1 HPO:3 G:1 V: 1
47 601088 Cataracts, congenital, with sensorineural deafness, down syndrome-like facial ap... HL:1 HPO:10 G:1 V: 7
48 616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing ... HL:1 HPO:0 G:1 V: 1
49 212850 Cerebellar ataxia and neurosensory deafness... HL:1 HPO:4 G:0 V: 0
50 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing ... HL:1 HPO:14 G:1 V: 1
51 604121 Cerebellar ataxia, deafness, and narcolepsy... HL:1 HPO:15 G:1 V: 3
52 CN035937 Charcot-Marie-Tooth disease deafness recessive type... HL:0 HPO:0 G:0 V: 0
53 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5... HL:1 HPO:41 G:1 V: 5
54 214800 CHARGE association... HL:1 HPO:132 G:2 V: 50
55 CN167202 Childhood onset sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
56 604213 Chudley-McCullough syndrome... HL:1 HPO:15 G:1 V: 4
57 609466 Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing... HL:1 HPO:0 G:0 V: 0
58 303600 Coffin-Lowry syndrome... HL:1 HPO:94 G:1 V: 9
59 CN000378 Conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
60 268315 Cone-rod dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction... HL:1 HPO:0 G:0 V: 0
61 614482 Congenital cataracts, hearing loss, and neurodegeneration... HL:1 HPO:12 G:1 V: 1
62 CN007559 Congenital conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
63 C0339789 Congenital deafness... HL:0 HPO:0 G:0 V: 0
64 CN007507 Congenital sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
65 121450 Corneal degeneration, ribbonlike, with deafness... HL:1 HPO:4 G:0 V: 0
66 217400 Corneal dystrophy and perceptive deafness... HL:1 HPO:7 G:1 V: 4
67 122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual ... HL:1 HPO:28 G:0 V: 0
68 122880 Craniofacial deafness hand syndrome... HL:1 HPO:18 G:1 V: 1
69 612247 Crouzon syndrome with acanthosis nigricans... HL:1 HPO:26 G:1 V: 1
70 605685 Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness... HL:1 HPO:14 G:0 V: 0
71 221320 Deafness conductive ptosis skeletal anomalies... HL:1 HPO:17 G:0 V: 0
72 234580 Deafness enamel hypoplasia nail defects... HL:1 HPO:29 G:0 V: 0
73 221740 Deafness oligodontia syndrome... HL:1 HPO:7 G:0 V: 0
74 125050 Deafness with anhidrotic ectodermal dysplasia... HL:1 HPO:3 G:0 V: 0
75 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)... HL:1 HPO:26 G:1 V: 12
76 124900 Deafness, autosomal dominant 1... HL:1 HPO:5 G:0 V: 0
77 601316 Deafness, autosomal dominant 10... HL:1 HPO:2 G:1 V: 1
78 601317 Deafness, autosomal dominant 11... HL:1 HPO:3 G:1 V: 3
79 601543 Deafness, autosomal dominant 12... HL:1 HPO:2 G:1 V: 10
80 601868 Deafness, autosomal dominant 13... HL:1 HPO:2 G:1 V: 2
81 602459 Deafness, autosomal dominant 15... HL:1 HPO:2 G:1 V: 4
82 603964 Deafness, autosomal dominant 16... HL:1 HPO:2 G:0 V: 0
83 606012 Deafness, autosomal dominant 18... HL:1 HPO:0 G:0 V: 0
84 604717 Deafness, autosomal dominant 20... HL:1 HPO:4 G:1 V: 8
85 607017 Deafness, autosomal dominant 21... HL:1 HPO:0 G:0 V: 0
86 606346 Deafness, autosomal dominant 22... HL:1 HPO:2 G:1 V: 4
87 605192 Deafness, autosomal dominant 23... HL:1 HPO:3 G:1 V: 1
88 606282 Deafness, autosomal dominant 24... HL:1 HPO:0 G:0 V: 0
89 605583 Deafness, autosomal dominant 25... HL:1 HPO:2 G:1 V: 1
90 612431 Deafness, autosomal dominant 27... HL:1 HPO:0 G:0 V: 0
91 608641 Deafness, autosomal dominant 28... HL:1 HPO:3 G:1 V: 2
92 612644 Deafness, autosomal dominant 2b... HL:1 HPO:2 G:1 V: 2
93 606451 Deafness, autosomal dominant 30... HL:1 HPO:0 G:0 V: 0
94 608645 Deafness, autosomal dominant 31... HL:1 HPO:0 G:0 V: 0
95 614211 Deafness, autosomal dominant 33... HL:1 HPO:4 G:0 V: 0
96 606705 Deafness, autosomal dominant 36... HL:1 HPO:2 G:1 V: 3
97 605594 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1... HL:1 HPO:5 G:0 V: 0
98 601544 Deafness, autosomal dominant 3a... HL:1 HPO:2 G:1 V: 10
99 612643 Deafness, autosomal dominant 3b... HL:1 HPO:2 G:1 V: 2
100 600652 Deafness, autosomal dominant 4... HL:1 HPO:2 G:1 V: 6
101 616357 DEAFNESS, AUTOSOMAL DOMINANT 40... HL:1 HPO:0 G:1 V: 2
102 608224 Deafness, autosomal dominant 41... HL:1 HPO:2 G:1 V: 2
103 608394 Deafness, autosomal dominant 43... HL:1 HPO:0 G:0 V: 0
104 607453 Deafness, autosomal dominant 44... HL:1 HPO:2 G:0 V: 0
105 608652 Deafness, autosomal dominant 47... HL:1 HPO:0 G:0 V: 0
106 607841 Deafness, autosomal dominant 48... HL:1 HPO:2 G:1 V: 5
107 608372 Deafness, autosomal dominant 49... HL:1 HPO:4 G:0 V: 0
108 614614 Deafness, autosomal dominant 4b... HL:1 HPO:1 G:1 V: 1
109 600994 Deafness, autosomal dominant 5... HL:1 HPO:2 G:1 V: 1
110 613074 Deafness, autosomal dominant 50... HL:1 HPO:3 G:1 V: 2
111 613558 Deafness, autosomal dominant 51... HL:1 HPO:2 G:0 V: 0
112 607683 Deafness, autosomal dominant 52... HL:1 HPO:1 G:0 V: 0
113 615649 Deafness, autosomal dominant 54... HL:1 HPO:0 G:0 V: 0
114 615629 Deafness, autosomal dominant 56... HL:1 HPO:0 G:1 V: 2
115 615654 Deafness, autosomal dominant 58... HL:1 HPO:0 G:0 V: 0
116 612642 Deafness, autosomal dominant 59... HL:1 HPO:0 G:0 V: 0
117 614152 Deafness, autosomal dominant 64... HL:1 HPO:3 G:1 V: 1
118 616044 Deafness, autosomal dominant 65... HL:1 HPO:0 G:1 V: 1
119 616340 DEAFNESS, AUTOSOMAL DOMINANT 67... HL:1 HPO:0 G:0 V: 0
120 601412 Deafness, autosomal dominant 7... HL:1 HPO:2 G:0 V: 0
121 601369 Deafness, autosomal dominant 9... HL:1 HPO:8 G:1 V: 9
122 603622 Deafness, autosomal dominant nonsyndromic sensorineural 17... HL:1 HPO:3 G:1 V: 2
123 C2931767 Deafness, autosomal dominant nonsyndromic sensorineural 22... HL:0 HPO:0 G:0 V: 0
124 C2931768 Deafness, autosomal dominant nonsyndromic sensorineural 23... HL:0 HPO:0 G:0 V: 0
125 C2931769 Deafness, autosomal dominant nonsyndromic sensorineural 24... HL:0 HPO:0 G:0 V: 0
126 609965 Deafness, autosomal dominant nonsyndromic sensorineural 53... HL:1 HPO:0 G:0 V: 0
127 C3148751 Deafness, autosomal dominant, with peripheral neuropathy... HL:0 HPO:0 G:1 V: 1
128 607197 Deafness, autosomal recessive... HL:1 HPO:0 G:1 V: 2
129 615837 Deafness, autosomal recessive 101... HL:1 HPO:0 G:1 V: 1
130 615974 Deafness, autosomal recessive 102... HL:1 HPO:0 G:1 V: 1
131 616042 Deafness, autosomal recessive 103... HL:1 HPO:0 G:1 V: 1
132 601386 Deafness, autosomal recessive 12... HL:1 HPO:4 G:2 V: 10
133 603098 Deafness, autosomal recessive 13... HL:1 HPO:0 G:0 V: 0
134 603678 Deafness, autosomal recessive 14... HL:1 HPO:0 G:0 V: 0
135 601869 Deafness, autosomal recessive 15... HL:1 HPO:3 G:1 V: 6
136 603720 Deafness, autosomal recessive 16... HL:1 HPO:2 G:1 V: 15
137 603010 Deafness, autosomal recessive 17... HL:1 HPO:0 G:0 V: 0
138 602092 Deafness, autosomal recessive 18... HL:1 HPO:2 G:1 V: 2
139 614945 Deafness, autosomal recessive 18b... HL:1 HPO:1 G:1 V: 2
140 220290 Deafness, autosomal recessive 1A... HL:1 HPO:4 G:1 V: 67
141 612645 Deafness, autosomal recessive 1b... HL:1 HPO:2 G:1 V: 1
142 600060 Deafness, autosomal recessive 2... HL:1 HPO:5 G:1 V: 3
143 604060 Deafness, autosomal recessive 20... HL:1 HPO:1 G:0 V: 0
144 603629 Deafness, autosomal recessive 21... HL:1 HPO:2 G:0 V: 0
145 607039 Deafness, autosomal recessive 22... HL:1 HPO:2 G:1 V: 6
146 609533 Deafness, autosomal recessive 23... HL:1 HPO:4 G:2 V: 4
147 611022 Deafness, autosomal recessive 24... HL:1 HPO:3 G:1 V: 3
148 613285 Deafness, autosomal recessive 25... HL:1 HPO:2 G:1 V: 4
149 605428 Deafness, autosomal recessive 26... HL:1 HPO:0 G:0 V: 0
150 605818 Deafness, autosomal recessive 27... HL:1 HPO:0 G:0 V: 0
151 609823 Deafness, autosomal recessive 28... HL:1 HPO:3 G:1 V: 8
152 614035 Deafness, autosomal recessive 29... HL:1 HPO:2 G:1 V: 6
153 600316 Deafness, autosomal recessive 3... HL:1 HPO:2 G:1 V: 18
154 607101 Deafness, autosomal recessive 30... HL:1 HPO:2 G:1 V: 1
155 607084 Deafness, autosomal recessive 31... HL:1 HPO:2 G:1 V: 2
156 608653 Deafness, autosomal recessive 32... HL:1 HPO:0 G:0 V: 0
157 607239 Deafness, autosomal recessive 33... HL:1 HPO:0 G:0 V: 0
158 608565 Deafness, autosomal recessive 35... HL:1 HPO:2 G:1 V: 6
159 609006 Deafness, autosomal recessive 36, with or without vestibular involvement... HL:1 HPO:3 G:0 V: 0
160 C3502293 Deafness, autosomal recessive 36, without vestibular involvement... HL:0 HPO:0 G:0 V: 0
161 607821 Deafness, autosomal recessive 37... HL:1 HPO:3 G:1 V: 3
162 608219 Deafness, autosomal recessive 38... HL:1 HPO:2 G:0 V: 0
163 608265 Deafness, autosomal recessive 39... HL:1 HPO:2 G:1 V: 1
164 608264 Deafness, autosomal recessive 40... HL:1 HPO:2 G:0 V: 0
165 609646 Deafness, autosomal recessive 42... HL:1 HPO:4 G:1 V: 3
166 610154 Deafness, autosomal recessive 44... HL:1 HPO:2 G:1 V: 1
167 612433 Deafness, autosomal recessive 45... HL:1 HPO:0 G:0 V: 0
168 609647 Deafness, autosomal recessive 46... HL:1 HPO:3 G:0 V: 0
169 609439 Deafness, autosomal recessive 48... HL:1 HPO:3 G:1 V: 3
170 610153 Deafness, autosomal recessive 49... HL:1 HPO:2 G:1 V: 1
171 600792 Deafness, autosomal recessive 5... HL:1 HPO:2 G:0 V: 0
172 609941 Deafness, autosomal recessive 51... HL:1 HPO:2 G:0 V: 0
173 609706 Deafness, autosomal recessive 53... HL:1 HPO:2 G:1 V: 1
174 609952 Deafness, autosomal recessive 55... HL:1 HPO:0 G:0 V: 0
175 610220 Deafness, autosomal recessive 59... HL:1 HPO:2 G:1 V: 3
176 600971 Deafness, autosomal recessive 6... HL:1 HPO:3 G:1 V: 6
177 613865 Deafness, autosomal recessive 61... HL:1 HPO:2 G:1 V: 4
178 610143 Deafness, autosomal recessive 62... HL:1 HPO:2 G:0 V: 0
179 611451 Deafness, autosomal recessive 63... HL:1 HPO:2 G:1 V: 5
180 610248 Deafness, autosomal recessive 65... HL:1 HPO:3 G:0 V: 0
181 610212 Deafness, autosomal recessive 66... HL:1 HPO:0 G:0 V: 0
182 610265 Deafness, autosomal recessive 67... HL:1 HPO:3 G:1 V: 2
183 610419 Deafness, autosomal recessive 68... HL:1 HPO:3 G:0 V: 0
184 600974 Deafness, autosomal recessive 7... HL:1 HPO:2 G:1 V: 9
185 614934 Deafness, autosomal recessive 70... HL:1 HPO:1 G:1 V: 1
186 612789 Deafness, autosomal recessive 71... HL:1 HPO:0 G:0 V: 0
187 613718 Deafness, autosomal recessive 74... HL:1 HPO:1 G:1 V: 2
188 615540 Deafness, autosomal recessive 76... HL:1 HPO:0 G:1 V: 1
189 613079 Deafness, autosomal recessive 77... HL:1 HPO:2 G:1 V: 7
190 613307 Deafness, autosomal recessive 79... HL:1 HPO:2 G:1 V: 5
191 605316 Deafness, autosomal recessive 8... HL:1 HPO:0 G:1 V: 15
192 601072 Deafness, autosomal recessive 8... HL:1 HPO:3 G:1 V: 15
193 614129 Deafness, autosomal recessive 81... HL:1 HPO:8 G:1 V: 3
194 613685 Deafness, autosomal recessive 83... HL:1 HPO:0 G:0 V: 0
195 613391 Deafness, autosomal recessive 84... HL:1 HPO:5 G:1 V: 2
196 614944 Deafness, autosomal recessive 84b... HL:1 HPO:2 G:1 V: 1
197 613392 Deafness, autosomal recessive 85... HL:1 HPO:0 G:0 V: 0
198 614617 Deafness, autosomal recessive 86... HL:1 HPO:1 G:1 V: 3
199 615429 Deafness, autosomal recessive 88... HL:1 HPO:0 G:1 V: 1
200 613916 Deafness, autosomal recessive 89... HL:1 HPO:1 G:1 V: 2
201 601071 Deafness, autosomal recessive 9... HL:1 HPO:4 G:1 V: 109
202 613453 Deafness, autosomal recessive 91... HL:1 HPO:2 G:1 V: 1
203 614899 Deafness, autosomal recessive 93... HL:1 HPO:1 G:0 V: 0
204 614414 Deafness, autosomal recessive 96... HL:1 HPO:1 G:0 V: 0
205 614861 Deafness, autosomal recessive 98... HL:1 HPO:1 G:0 V: 0
206 300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities... HL:1 HPO:6 G:0 V: 0
207 221200 Deafness, cochlear, with myopia and intellectual impairment... HL:1 HPO:7 G:1 V: 3
208 124490 Deafness, conductive stapedial, with ear malformation and facial palsy... HL:1 HPO:10 G:0 V: 0
209 221300 Deafness, conductive, with malformed external ear... HL:1 HPO:13 G:0 V: 0
210 C1866053 Deafness, congenital heart defects, and posterior embryotoxon... HL:0 HPO:0 G:1 V: 1
211 220300 Deafness, congenital, and familial myoclonic epilepsy... HL:1 HPO:3 G:0 V: 0
212 124480 Deafness, congenital, and onychodystrophy, autosomal dominant... HL:1 HPO:12 G:0 V: 0
213 220900 Deafness, congenital, with total albinism... HL:1 HPO:5 G:0 V: 0
214 221350 Deafness, congenital, with vitiligo and achalasia... HL:1 HPO:9 G:0 V: 0
215 C2673761 Deafness, digenic, GJB2/GJB3... HL:0 HPO:0 G:2 V: 3
216 C2673760 Deafness, digenic, GJB2/GJB6... HL:0 HPO:0 G:2 V: 2
217 304590 Deafness, high-frequency sensorineural, X-linked... HL:1 HPO:0 G:1 V: 6
218 304500 Deafness, high-frequency sensorineural, X-linked... HL:1 HPO:2 G:1 V: 6
219 124700 Deafness, mid-tone neural... HL:1 HPO:4 G:0 V: 0
220 221500 Deafness, neural, congenital moderate... HL:1 HPO:2 G:0 V: 0
221 221700 Deafness, neural, with atypical atopic dermatitis... HL:1 HPO:4 G:0 V: 0
222 609946 Deafness, neurosensory, autosomal recessive 47... HL:1 HPO:0 G:0 V: 0
223 500008 Deafness, nonsyndromic sensorineural, mitochondrial... HL:1 HPO:0 G:6 V: 18
224 605429 Deafness, nonsyndromic, modifier 1... HL:1 HPO:0 G:0 V: 0
225 601449 Deafness, progressive with stapes fixation... HL:1 HPO:3 G:0 V: 0
226 611102 Deafness, sensorineural, and male infertility... HL:1 HPO:4 G:1 V: 1
227 221745 Deafness, sensorineural, autosomal-mitochondrial type... HL:1 HPO:4 G:0 V: 0
228 124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease... HL:1 HPO:11 G:0 V: 0
229 612097 Deafness, unilateral, with delayed endolymphatic hydrops... HL:1 HPO:3 G:0 V: 0
230 C1421921 Deafness, without vestibular involvement, autosomal dominant... HL:0 HPO:0 G:1 V: 3
231 CN043651 Deafness, X-linked... HL:0 HPO:0 G:0 V: 0
232 304400 Deafness, X-linked 2... HL:1 HPO:5 G:1 V: 16
233 300030 Deafness, X-linked 3... HL:1 HPO:2 G:0 V: 0
234 300066 Deafness, X-linked 4... HL:1 HPO:4 G:1 V: 5
235 300614 Deafness, X-linked 5... HL:1 HPO:7 G:1 V: 15
236 300914 Deafness, X-linked 6... HL:1 HPO:0 G:0 V: 0
237 400043 Deafness, Y-linked 1... HL:1 HPO:3 G:0 V: 0
238 125230 Deafness-craniofacial syndrome... HL:1 HPO:17 G:0 V: 0
239 304350 Deafness-hypogonadism syndrome... HL:1 HPO:0 G:0 V: 0
240 125420 Denticles... HL:1 HPO:4 G:1 V: 1
241 125490 Dentinogenesis imperfecta - Shield's type II... HL:1 HPO:2 G:1 V: 4
242 125500 Dentinogenesis imperfecta - Shield's type III... HL:1 HPO:4 G:1 V: 1
243 600101 DFNA 2 Nonsyndromic Hearing Loss... HL:1 HPO:4 G:1 V: 15
244 CN043589 DFNA 3 Nonsyndromic Hearing Loss and Deafness... HL:0 HPO:0 G:0 V: 0
245 CN184629 DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss... HL:0 HPO:0 G:0 V: 0
246 CN118854 DFNB 8/10 Nonsyndromic Hearing Loss and Deafness... HL:0 HPO:0 G:0 V: 0
247 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness... HL:1 HPO:28 G:1 V: 11
248 125853 Diabetes mellitus type 2... HL:1 HPO:4 G:21 V: 27
249 520000 Diabetes-deafness syndrome maternally transmitted... HL:1 HPO:34 G:3 V: 3
250 605362 Dilated cardiomyopathy 1J... HL:1 HPO:5 G:1 V: 1
251 603133 Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, an... HL:1 HPO:0 G:0 V: 0
252 607323 Duane-radial ray syndrome... HL:1 HPO:78 G:1 V: 6
253 128980 Earlobes, thickened, with conductive deafness from incudostapedial abnormalities... HL:1 HPO:5 G:0 V: 0
254 224800 Ectodermal dysplasia and neurosensory deafness... HL:1 HPO:15 G:0 V: 0
255 609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial feature... HL:1 HPO:22 G:0 V: 0
256 614557 Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lo... HL:1 HPO:21 G:0 V: 0
257 602564 Emphysema, congenital, with deafness, penoscrotal web, and mental retardation... HL:1 HPO:0 G:0 V: 0
258 600791 Enlarged vestibular aqueduct syndrome... HL:1 HPO:4 G:4 V: 67
259 162900 Epidermal nevus... HL:1 HPO:3 G:5 V: 11
260 226950 Epiphyseal dysplasia of femoral head, myopia, and deafness... HL:1 HPO:3 G:0 V: 0
261 132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness... HL:1 HPO:16 G:1 V: 1
262 153650 Epstein syndrome... HL:1 HPO:13 G:1 V: 3
263 133200 Erythrokeratodermia variabilis... HL:1 HPO:32 G:2 V: 11
264 602556 Facial dysmorphism, cleft palate, hearing loss, and camptodactyly... HL:1 HPO:0 G:0 V: 0
265 191900 Familial amyloid nephropathy with urticaria AND deafness... HL:1 HPO:41 G:1 V: 4
266 604352 Febrile seizures, familial, 4... HL:1 HPO:7 G:1 V: 11
267 153640 Fechtner syndrome... HL:1 HPO:14 G:1 V: 7
268 614524 Fibrochondrogenesis 2... HL:1 HPO:16 G:0 V: 0
269 136600 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness... HL:1 HPO:5 G:0 V: 0
270 233400 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance... HL:1 HPO:23 G:1 V: 5
271 CN000341 Hearing impairment... HL:0 HPO:0 G:3 V: 29
272 613290 Hearing loss, cisplatin-induced, susceptibility to... HL:1 HPO:0 G:0 V: 0
273 613035 Hearing loss, noise-induced, susceptibility to... HL:1 HPO:0 G:0 V: 0
274 CN229757 Hearing Loss/Deafness... HL:0 HPO:0 G:0 V: 0
275 C0236038 Hereditary hearing loss and deafness... HL:0 HPO:0 G:0 V: 0
276 129500 Hidrotic ectodermal dysplasia syndrome... HL:1 HPO:37 G:1 V: 3
277 CN004526 High-frequency hearing impairment... HL:0 HPO:0 G:0 V: 0
278 CN001598 High-frequency sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
279 235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness... HL:1 HPO:11 G:0 V: 0
280 602782 Histiocytosis-lymphadenopathy plus syndrome... HL:1 HPO:28 G:1 V: 11
281 607748 Hypercholanemia, familial... HL:1 HPO:7 G:2 V: 2
282 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS... HL:1 HPO:8 G:0 V: 0
283 614187 Hypertelorism, preauricular sinus, punctal pits, and deafness... HL:1 HPO:5 G:0 V: 0
284 146000 Hypochondroplasia... HL:1 HPO:30 G:1 V: 2
285 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS... HL:1 HPO:23 G:0 V: 0
286 602540 Hystrix-like ichthyosis with deafness... HL:1 HPO:14 G:1 V: 1
287 CN007576 Infantile sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
288 604229 Irido-corneo-trabecular dysgenesis... HL:1 HPO:12 G:3 V: 8
289 601631 Iridogoniodysgenesis type1... HL:1 HPO:6 G:1 V: 1
290 137600 Iridogoniodysgenesis, dominant type... HL:1 HPO:6 G:1 V: 2
291 147750 IVIC syndrome... HL:1 HPO:33 G:0 V: 0
292 311150 Jensen syndrome... HL:1 HPO:7 G:1 V: 1
293 220400 Jervell and Lange-Nielsen syndrome... HL:1 HPO:6 G:3 V: 10
294 612347 Jervell and Lange-Nielsen syndrome 2... HL:1 HPO:4 G:1 V: 3
295 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant... HL:1 HPO:23 G:1 V: 5
296 148350 Keratoderma palmoplantar deafness... HL:1 HPO:5 G:2 V: 4
297 148820 Klein-Waardenberg's syndrome... HL:1 HPO:43 G:1 V: 3
298 149200 Knuckle pads, deafness AND leukonychia syndrome... HL:1 HPO:6 G:1 V: 2
299 149730 Levy-Hollister syndrome... HL:1 HPO:79 G:0 V: 0
300 608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, an... HL:1 HPO:27 G:0 V: 0
301 192500 Long QT syndrome 1... HL:1 HPO:8 G:3 V: 31
302 613695 Long QT syndrome 5... HL:1 HPO:6 G:1 V: 2
303 CN007520 Low-frequency hearing loss... HL:0 HPO:0 G:0 V: 0
304 C3810445 Low-frequency sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
305 600208 Macrothrombocytopenia and progressive sensorineural deafness... HL:1 HPO:11 G:1 V: 1
306 273300 Malignant tumor of testis... HL:1 HPO:7 G:3 V: 3
307 615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome... HL:1 HPO:0 G:1 V: 1
308 300519 Martin-Probst deafness-mental retardation syndrome... HL:1 HPO:44 G:1 V: 1
309 248910 Mastocytosis cutaneous with short stature conductive hearing loss and microtia... HL:1 HPO:36 G:0 V: 0
310 155100 May-Hegglin anomaly... HL:1 HPO:11 G:1 V: 7
311 249270 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineu... HL:1 HPO:34 G:1 V: 5
312 113650 Melnick-Fraser syndrome... HL:1 HPO:40 G:2 V: 19
313 300844 Mental retardation, X-linked 19... HL:1 HPO:2 G:1 V: 3
314 250420 Metaphyseal dysostosis mental retardation conductive deafness... HL:1 HPO:46 G:0 V: 0
315 257920 Michels syndrome... HL:1 HPO:33 G:1 V: 3
316 156620 Microcephaly deafness syndrome... HL:1 HPO:19 G:0 V: 0
317 612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance... HL:1 HPO:22 G:0 V: 0
318 CN181766 Microtia with or without hearing impairment... HL:0 HPO:0 G:0 V: 0
319 612290 Microtia, hearing impairment, and cleft palate... HL:1 HPO:5 G:1 V: 2
320 CN185904 Mid-frequency hearing loss... HL:0 HPO:0 G:0 V: 0
321 CN007565 Mild conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
322 CN185416 Mild hearing impairment... HL:0 HPO:0 G:0 V: 0
323 CN007555 Mild neurosensory hearing impairment... HL:0 HPO:0 G:0 V: 0
324 CN228811 mild-moderate hearing loss... HL:0 HPO:0 G:0 V: 0
325 C0751651 Mitochondrial diseases... HL:0 HPO:0 G:2 V: 13
326 CN000383 Mixed hearing impairment... HL:0 HPO:0 G:0 V: 0
327 CN185420 Moderate conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
328 CN185417 Moderate hearing impairment... HL:0 HPO:0 G:0 V: 0
329 CN007486 Moderate sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
330 304700 Mohr-Tranebjaerg syndrome... HL:1 HPO:19 G:1 V: 4
331 253200 Mucopolysaccharidosis type VI... HL:1 HPO:55 G:1 V: 6
332 602849 Muenke syndrome... HL:1 HPO:32 G:1 V: 1
333 124500 Mutilating keratoderma... HL:1 HPO:14 G:1 V: 1
334 CN073381 MYH9 related disorders... HL:0 HPO:0 G:1 V: 12
335 604363 Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric diso... HL:1 HPO:0 G:0 V: 0
336 159800 Myoclonus, cerebellar ataxia, and deafness... HL:1 HPO:11 G:0 V: 0
337 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and... HL:1 HPO:6 G:1 V: 1
338 256120 Nephropathy deafness hyperparathyroidism... HL:1 HPO:12 G:0 V: 0
339 609057 Nephropathy with pretibial epidermolysis bullosa and deafness... HL:1 HPO:8 G:0 V: 0
340 609469 Nephropathy, progressive, with deafness... HL:1 HPO:0 G:0 V: 0
341 256200 Nephrosis deafness urinary tract digital malformation... HL:1 HPO:16 G:0 V: 0
342 603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and ena... HL:1 HPO:5 G:0 V: 0
343 214370 Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and... HL:1 HPO:19 G:0 V: 0
344 614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE... HL:1 HPO:14 G:1 V: 3
345 CN231069 NoiseNot providedinduced hearing loss, susceptibility to, association... HL:0 HPO:0 G:0 V: 0
346 CN043648 Non-syndromic genetic deafness... HL:0 HPO:0 G:1 V: 1
347 C3711374 Nonsyndromic Deafness... HL:0 HPO:0 G:2 V: 2
348 CN043649 Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant... HL:0 HPO:0 G:0 V: 0
349 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive... HL:0 HPO:0 G:0 V: 0
350 C1842137 nonsyndromic sensorineural hearing loss... HL:0 HPO:0 G:0 V: 0
351 C0033074 Old-aged sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
352 258650 Optic atrophy polyneuropathy deafness... HL:1 HPO:41 G:0 V: 0
353 165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant... HL:1 HPO:6 G:0 V: 0
354 166780 Otofaciocervical syndrome... HL:1 HPO:9 G:0 V: 0
355 215150 Otospondylomegaepiphyseal dysplasia... HL:1 HPO:48 G:1 V: 2
356 CN220453 partial sensorineural deafness... HL:0 HPO:0 G:1 V: 1
357 C1853482 Pear-shaped nose... HL:0 HPO:0 G:0 V: 0
358 C1866731 Pear-shaped vertebrae... HL:0 HPO:0 G:0 V: 0
359 274600 Pendred's syndrome... HL:1 HPO:20 G:3 V: 86
360 614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss... HL:1 HPO:10 G:1 V: 1
361 614926 Perrault syndrome 2... HL:1 HPO:3 G:1 V: 1
362 615300 Perrault syndrome 4... HL:1 HPO:0 G:3 V: 7
363 171480 Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia... HL:1 HPO:40 G:0 V: 0
364 300661 Phosphoribosylpyrophosphate synthetase superactivity... HL:1 HPO:21 G:1 V: 6
365 172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunctio... HL:1 HPO:14 G:0 V: 0
366 CN069313 Pigmentary retinopathy and sensorineural deafness... HL:0 HPO:0 G:1 V: 1
367 262000 Pili torti-deafness syndrome... HL:1 HPO:15 G:1 V: 2
368 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract... HL:1 HPO:23 G:1 V: 7
369 CN007564 Postlingual sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
370 CN000372 Prelingual sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
371 CN185419 Profound hearing impairment... HL:0 HPO:0 G:0 V: 0
372 CN167204 Profound sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
373 C1861325 Progressive conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
374 C1842138 Progressive hearing impairment... HL:0 HPO:0 G:0 V: 0
375 161900 Progressive hereditary glomerulonephritis without deafness... HL:1 HPO:10 G:0 V: 0
376 CN000381 Progressive sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
377 264140 Prune belly syndrome with pulmonic stenosis, mental retardation and deafness... HL:1 HPO:6 G:0 V: 0
378 178651 Pulmonic stenosis and deafness... HL:1 HPO:4 G:0 V: 0
379 267300 Renal tubular acidosis with progressive nerve deafness... HL:1 HPO:4 G:1 V: 1
380 C1864499 Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineur... HL:0 HPO:0 G:1 V: 2
381 613809 Retinitis pigmentosa 39... HL:1 HPO:6 G:2 V: 8
382 614180 Retinitis pigmentosa 61... HL:1 HPO:6 G:1 V: 1
383 268010 Retinitis pigmentosa inversa with deafness... HL:1 HPO:6 G:0 V: 0
384 268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism... HL:1 HPO:37 G:0 V: 0
385 300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without ... HL:1 HPO:8 G:0 V: 0
386 500004 Retinitis pigmentosa-deafness syndrome... HL:1 HPO:1 G:1 V: 1
387 180550 Ring dermoid of cornea... HL:1 HPO:3 G:1 V: 1
388 605249 Sebastian syndrome... HL:1 HPO:9 G:1 V: 4
389 607540 Secretory diarrhea, myopathy, and deafness... HL:1 HPO:0 G:0 V: 0
390 C3501265 Sensorineural deafness with hypertrophic cardiomyopathy... HL:0 HPO:0 G:1 V: 1
391 C2748440 Sensorineural deafness with mild renal dysfunction... HL:0 HPO:0 G:1 V: 2
392 CN000380 Sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
393 C0018784 Sensorineural hearing loss... HL:0 HPO:0 G:0 V: 0
394 CN196729 sensorineural hearing loss, late onset... HL:0 HPO:0 G:0 V: 0
395 602340 Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth... HL:1 HPO:0 G:0 V: 0
396 612780 SeSAME syndrome... HL:1 HPO:27 G:1 V: 9
397 CN185421 Severe conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
398 C2080707 Severe hearing impairment... HL:0 HPO:0 G:0 V: 0
399 CN228592 Severe hearing loss... HL:0 HPO:0 G:0 V: 0
400 CN007590 Severe sensorineural hearing impairment... HL:0 HPO:0 G:0 V: 0
401 609621 Short QT syndrome 2... HL:1 HPO:5 G:1 V: 1
402 614896 Sinoatrial node dysfunction and deafness... HL:1 HPO:2 G:1 V: 1
403 312910 Spastic paraparesis and deafness... HL:1 HPO:20 G:0 V: 0
404 182690 Spastic paraplegia, sensorineural deafness, mental retardation, and progressive ... HL:1 HPO:18 G:0 V: 0
405 220600 Split-hand/foot malformation 1 with sensorineural hearing loss... HL:1 HPO:8 G:1 V: 1
406 184000 Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness... HL:1 HPO:13 G:0 V: 0
407 609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcificati... HL:1 HPO:26 G:0 V: 0
408 184840 Stickler syndrome, type 3... HL:1 HPO:22 G:1 V: 1
409 187600 Thanatophoric dysplasia type 1... HL:1 HPO:55 G:1 V: 15
410 187601 Thanatophoric dysplasia, type 2... HL:1 HPO:18 G:1 V: 1
411 274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafn... HL:1 HPO:16 G:0 V: 0
412 275230 Tibia, absence of, with congenital deafness... HL:1 HPO:3 G:0 V: 0
413 107480 Townes syndrome... HL:1 HPO:83 G:1 V: 4
414 CN185902 Transient hearing impairment... HL:0 HPO:0 G:0 V: 0
415 275630 Triglyceride storage disease with ichthyosis... HL:1 HPO:18 G:2 V: 6
416 191200 Tune deafness... HL:1 HPO:2 G:0 V: 0
417 CN221712 Unilateral conductive hearing impairment... HL:0 HPO:0 G:0 V: 0
418 125000 Unilateral deafness... HL:1 HPO:2 G:0 V: 0
419 CN008738 Unilateral deafness... HL:0 HPO:0 G:0 V: 0
420 C0339534 Usher syndrome type 2... HL:0 HPO:0 G:0 V: 0
421 C3148929 Usher syndrome type 2c, GPR98/PDZD digenic... HL:0 HPO:0 G:0 V: 0
422 276900 Usher syndrome, type 1... HL:1 HPO:8 G:1 V: 94
423 C1848638 Usher syndrome, type 1B... HL:0 HPO:0 G:1 V: 9
424 276904 Usher syndrome, type 1C... HL:1 HPO:4 G:1 V: 6
425 601067 Usher syndrome, type 1D... HL:1 HPO:4 G:2 V: 36
426 602097 Usher syndrome, type 1E... HL:1 HPO:4 G:0 V: 0
427 602083 Usher syndrome, type 1F... HL:1 HPO:4 G:2 V: 12
428 606943 Usher syndrome, type 1G... HL:1 HPO:5 G:3 V: 8
429 614869 Usher syndrome, type 1J... HL:1 HPO:5 G:1 V: 1
430 276901 Usher syndrome, type 2A... HL:1 HPO:3 G:3 V: 96
431 605472 Usher syndrome, type 2C... HL:1 HPO:3 G:1 V: 21
432 611383 Usher syndrome, type 2D... HL:1 HPO:4 G:1 V: 3
433 276902 Usher syndrome, type 3... HL:1 HPO:7 G:1 V: 11
434 193500 Waardenburg syndrome type 1... HL:1 HPO:39 G:1 V: 6
435 193510 Waardenburg syndrome type 2A... HL:1 HPO:17 G:1 V: 3
436 277580 Waardenburg syndrome type 4A... HL:1 HPO:20 G:1 V: 3
437 613265 Waardenburg syndrome type 4B... HL:1 HPO:12 G:1 V: 4
438 613266 Waardenburg syndrome type 4C... HL:1 HPO:13 G:1 V: 9
439 277610 Weissenbacher-Zweymuller syndrome... HL:1 HPO:14 G:1 V: 1
440 600965 WFS1-Related Disorders... HL:1 HPO:3 G:1 V: 11
441 CN184630 Wolfram syndrome... HL:0 HPO:0 G:0 V: 0
442 604928 Wolfram syndrome 2... HL:1 HPO:8 G:1 V: 1
443 614296 Wolfram-like syndrome, autosomal dominant... HL:1 HPO:10 G:1 V: 3
444 601706 Yemenite deaf-blind hypopigmentation syndrome... HL:1 HPO:27 G:0 V: 0
Switch to table view
Most Common:
Hearing Loss (D034381)
,
Deafness (D003638)
,
Sensorineural HL (D006319)
,
Waardenburg Syndrome
,
Usher Syndromes
Disease Browser
Parent Node:
Developmental Disabilities
(D002658)
Parent Node:
Nervous System Malformations
(D009421)
..Starting node
..
Cerebellar Hypoplasia
(C562568)
Child Nodes:
Sister Nodes:
..
Agenesis of Corpus Callosum
(D061085)
59
..
Aicardi-Goutieres syndrome
(C535607)
1
..
Aicardi-Goutieres Syndrome 3
(C563683)
..
Aicardi-Goutieres Syndrome 4
(C563681)
..
Aicardi-Goutieres syndrome 5
(C535608)
..
Athabaskan brainstem dysgenesis
(C535397)
..
Central Nervous System Cysts
(D020863)
11
..
Central Nervous System Vascular Malformations
(D020785)
10
..
Cerebellar Hypoplasia
(C562568)
..
Chromosome 17p13.3 Duplication Syndrome
(C567705)
..
Dandy-Walker Syndrome
(D003616)
13
..
Drachtman Weinblatt Sitarz syndrome
(C535603)
..
Hereditary Sensory and Autonomic Neuropathies
(D009477)
12
..
Hereditary Sensory and Motor Neuropathy
(D015417)
164
..
Hydranencephaly
(D006832)
3
..
Malformations of Cortical Development
(D054220)
226
..
Median-Ulnar Nerve Communications
(C563598)
..
Microphthalmia, Syndromic 3
(C565948)
..
Microphthalmia, Syndromic 6
(C566440)
..
Neural Tube Defects
(D009436)
55
..
Schisis association
(C536633)
..
Septo-Optic Dysplasia
(D025962)
6
Human Disease MESH is developed by
UMLS
.
Further data from
MedGen
,
OMIM
,
CTD
Term ID:
1927
Name:
Cerebellar Hypoplasia
Definition:
Alternative IDs:
ParentIDs:
MESH:D002658|MESH:D009421
TreeNumbers:
C10.500/C562568 |C16.131.666/C562568 |F03.550.362/C562568
Synonyms:
Slim Mappings:
Congenital abnormality|Mental disorder|Nervous system disease
Reference:
MedGen:
C562568
MeSH:
C562568
OMIM:
213000
;
Genes:
Phenotypes
1
HP:0000007
Autosomal recessive inheritance
2
HP:0001251
Ataxia
3
HP:0001321
Cerebellar hypoplasia
4
HP:0001290
Generalized hypotonia
5
HP:0001252
Hypotonia
6
HP:0000639
Nystagmus
7
HP:0001337
Tremor
Disease Causing ClinVar Variants