Hypoplasia of the maxilla
Symptom Information:
Symptom ID: | HPO:0000327 | |||||||||||||||||||||||||||||
Synonyms: |
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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 skull(HPO:0000929) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Abnormality of facial skeleton(HPO:0011821) Abnormality of the maxilla(HPO:0000326) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Abnormality of the face(HPO:0000271) Abnormality of the midface(HPO:0000309) Abnormality of the maxilla(HPO:0000326) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Abnormality of the skull(HPO:0000929) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Abnormality of facial skeleton(HPO:0011821) Abnormality of the maxilla(HPO:0000326) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) Aplasia/hypoplasia involving the skeleton(HPO:0009115) Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122) Aplasia/Hypoplasia involving bones of the skull(HPO:0009116) Aplasia/Hypoplasia of the maxilla(HPO:0009117) Hypoplasia of the maxilla(HPO:0000327) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380) Hypoplasia of the maxilla(HPO:0000327) |
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Database Frequency: | 129 / 7739 | |||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
17q12 microduplication syndrome | (Orphanet:261272) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
46,XX disorder of sex development - skeletal anomalies | (Orphanet:2975) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
AXENFELD-RIEGER SYNDROME, TYPE 1 | (OMIM:180500) |
AXENFELD-RIEGER SYNDROME, TYPE 2 | (OMIM:601499) |
Aarskog-Scott syndrome | (Orphanet:915) |
Ablepharon macrostomia syndrome | (Orphanet:920) |
Absent tibia - polydactyly - arachnoid cyst | (Orphanet:3328) |
Acrodysostosis | (Orphanet:950) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Angelman syndrome | (Orphanet:72) |
Ankyloblepharon - ectodermal defects - cleft lip/palate | (Orphanet:1071) |
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies | (Orphanet:1101) |
Apert syndrome | (Orphanet:87) |
Atelosteogenesis type III | (Orphanet:56305) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive Stickler syndrome | (Orphanet:250984) |
Autosomal recessive distal osteolysis syndrome | (Orphanet:2776) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
Barber-Say syndrome | (Orphanet:1231) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Brachyolmia-amelogenesis imperfecta syndrome | (Orphanet:2899) |
Branchio-skeleto-genital syndrome | (Orphanet:1299) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Carpenter syndrome | (Orphanet:65759) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cohen syndrome | (Orphanet:193) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cowden syndrome | (Orphanet:201) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniosynostosis - intracranial calcifications | (Orphanet:52054) |
Craniosynostosis and dental anomalies | (Orphanet:284149) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 19p13.3 | (Orphanet:96129) |
Dyskeratosis congenita | (Orphanet:1775) |
Dysostosis, Stanescu type | (Orphanet:1798) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 | (OMIM:129900) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 | (OMIM:604292) |
EEC syndrome | (Orphanet:1896) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | (OMIM:614744) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
Familial scaphocephaly syndrome, McGillivray type | (Orphanet:168624) |
Frontonasal dysplasia | (Orphanet:250) |
Geroderma osteodysplastica | (Orphanet:2078) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Goldenhar syndrome | (Orphanet:374) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Greenberg dysplasia | (Orphanet:1426) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
Hemifacial hypertrophy | (Orphanet:141145) |
Hypohidrotic ectodermal dysplasia | (Orphanet:238468) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Jackson-Weiss syndrome | (Orphanet:1540) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
Keipert syndrome | (Orphanet:2662) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MEIER-GORLIN SYNDROME 3 | (OMIM:613803) |
MEIER-GORLIN SYNDROME 4 | (OMIM:613804) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 | (OMIM:300676) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marshall syndrome | (Orphanet:560) |
Maxillo-nasal dysplasia | (Orphanet:1248) |
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty | (Orphanet:2504) |
Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Moebius syndrome | (Orphanet:570) |
Multicentric carpo-tarsal osteolysis with or without nephropathy | (Orphanet:2774) |
Myhre syndrome | (Orphanet:2588) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
Nager syndrome | (Orphanet:245) |
Nasopalpebral lipoma - coloboma - telecanthus | (Orphanet:2399) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
PGM1-CDG | (Orphanet:319646) |
Pfeiffer syndrome | (Orphanet:710) |
Proteus-like syndrome | (Orphanet:2969) |
Ptosis - upper ocular movement limitation - absence of lacrimal punctum | (Orphanet:228396) |
RAPP-HODGKIN SYNDROME | (OMIM:129400) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SPONDYLOSPINAL THORACIC DYSOSTOSIS | (OMIM:601809) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Sakati-Nyhan syndrome | (Orphanet:3128) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Timothy syndrome | (Orphanet:65283) |
Torg-Winchester syndrome | (Orphanet:3460) |
Treacher-Collins syndrome | (Orphanet:861) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Van den Ende-Gupta syndrome | (Orphanet:2460) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Weill-Marchesani syndrome | (Orphanet:3449) |
X-linked hypohidrotic ectodermal dysplasia | (Orphanet:181) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked spastic paraplegia type 16 | (Orphanet:100997) |
X-linked spondyloepimetaphyseal dysplasia | (Orphanet:93349) |