Smooth philtrum
Symptom Information:
Symptom ID: | HPO:0000319 | |||||||||||||||||||||||
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 head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the mouth(HPO:0000153) Abnormality of the philtrum(HPO:0000288) Smooth philtrum(HPO:0000319) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal disorders congenital NEC(MedDRA:10029513) Smooth philtrum(HPO:0000319) |
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Database Frequency: | 72 / 7739 | |||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q12 microduplication syndrome | (Orphanet:261272) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AREDYLD syndrome | (Orphanet:1133) |
Acrocallosal syndrome | (Orphanet:36) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 | (OMIM:616001) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Brachytelephalangy - dysmorphism - Kallmann syndrome | (Orphanet:1295) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
COG1-CDG | (Orphanet:263508) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 4 | (OMIM:614701) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
Congenital short bowel syndrome | (Orphanet:2301) |
Cranioectodermal dysplasia 4 | (OMIM:614378) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
DPM1-CDG | (Orphanet:79322) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal monosomy 1q | (Orphanet:36367) |
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET | (OMIM:129540) |
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | (OMIM:614744) |
FACIOTHORACOGENITAL SYNDROME | (OMIM:227320) |
Femoral-facial syndrome | (Orphanet:1988) |
Floating-Harbor syndrome | (Orphanet:2044) |
GELEOPHYSIC DYSPLASIA 2 | (OMIM:614185) |
Geleophysic dysplasia | (Orphanet:2623) |
Growth delay due to insulin-like growth factor I resistance | (Orphanet:73273) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | (OMIM:235830) |
Hennekam syndrome | (Orphanet:2136) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | (OMIM:300048) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Lateral meningocele syndrome | (Orphanet:2789) |
MEIER-GORLIN SYNDROME 2 | (OMIM:613800) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | (OMIM:613192) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | (OMIM:614202) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MOMO syndrome | (Orphanet:2563) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Opitz G/BBB syndrome | (Orphanet:2745) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
RIENHOFF SYNDROME | (OMIM:615582) |
SENER SYNDROME | (OMIM:606156) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
Sialuria | (Orphanet:3166) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE III | (OMIM:190351) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Opitz G/BBB syndrome | (Orphanet:306597) |