Macrotia
Symptom Information:
Symptom ID: | HPO:0000400 | |||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the ear(HPO:0000598) Abnormality of the outer ear(HPO:0000356) Abnormality of the pinna(HPO:0000377) Macrotia(HPO:0000400) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Ear and labyrinthine disorders congenital(MedDRA:10013995) External ear disorders congenital(MedDRA:10015733) Macrotia(HPO:0000400) |
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Database Frequency: | 108 / 7739 | |||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2p21 microdeletion syndrome | (Orphanet:163693) |
3q13 microdeletion syndrome | (Orphanet:1621) |
3q29 microdeletion syndrome | (Orphanet:65286) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG3-CDG | (Orphanet:79321) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alpha-mannosidosis | (Orphanet:61) |
Anophthalmia plus syndrome | (Orphanet:1104) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
Barth syndrome | (Orphanet:111) |
Bartter syndrome | (Orphanet:112) |
Beckwith-Wiedemann syndrome due to NSD1 mutation | (Orphanet:238613) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Camptodactyly syndrome, Guadalajara type 2 | (Orphanet:1326) |
Christianson syndrome | (Orphanet:85278) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome | (Orphanet:306504) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
DERMATOLEUKODYSTROPHY | (OMIM:221790) |
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA | (OMIM:221950) |
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS | (OMIM:600771) |
De Barsy syndrome | (Orphanet:2962) |
Ectodermal dysplasia - cutaneous syndactyly syndrome | (Orphanet:247827) |
Emanuel syndrome | (Orphanet:96170) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Fragile X syndrome | (Orphanet:908) |
Galloway-Mowat syndrome | (Orphanet:2065) |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | (OMIM:235830) |
HOLOPROSENCEPHALY 5 | (OMIM:609637) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
Harrod syndrome | (Orphanet:2115) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked, Shashi type | (Orphanet:85286) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KBG syndrome | (Orphanet:2332) |
Kabuki syndrome | (Orphanet:2322) |
Keutel syndrome | (Orphanet:85202) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LAMBOTTE SYNDROME | (OMIM:245552) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Langer-Giedion syndrome | (Orphanet:502) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | (OMIM:615802) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 | (OMIM:616269) |
MENTAL RETARDATION, X-LINKED 101 | (OMIM:300928) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
MENTAL RETARDATION, X-LINKED 45 | (OMIM:300498) |
MENTAL RETARDATION, X-LINKED 93 | (OMIM:300659) |
MGAT2-CDG | (Orphanet:79329) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Micro syndrome | (Orphanet:2510) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Nance-Horan syndrome | (Orphanet:627) |
Neonatal hemochromatosis | (Orphanet:446) |
Neu-Laxova syndrome | (Orphanet:2671) |
Nijmegen breakage syndrome | (Orphanet:647) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | (OMIM:616154) |
PMM2-CDG | (Orphanet:79318) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
Pseudoleprechaunism syndrome, Patterson type | (Orphanet:2976) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Renpenning syndrome | (Orphanet:3242) |
SHORT syndrome | (Orphanet:3163) |
Say-Barber-Miller syndrome | (Orphanet:3132) |
Short-rib thoracic dysplasia 13 with or without polydactyly | (OMIM:616300) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I | (OMIM:190350) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Tetrasomy 12p | (Orphanet:884) |
Townes-Brocks syndrome | (Orphanet:857) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
Weaver syndrome | (Orphanet:3447) |
Wilson-Turner syndrome | (Orphanet:3459) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | (Orphanet:324410) |