Human Phenotype Ontology 
Grandparent Node:
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Abnormal jaw morphology (HP:0030791)help
Parent Node:
expand
Abnormality of the mandible (HP:0000277)help
..Starting node
..expand
Retrognathia (HP:0000278)help
Term ID: 278
Name: Retrognathia
Synonym: Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrogenia; Retrognathia of lower jaw; Weak chin; Weak jaw
Definition: An abnormality in which the mandible is mislocalised posteriorly.
Comments:
Reference: HP:0000278
Genes and Diseases:
 
       Child Nodes:
........expandMicroretrognathia (HP:0000308) help

 Sister Nodes: 
..expandAbnormal mandible condylar process morphology (HP:3000077) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormality of the temporomandibular joint (HP:0010754) help
..expandAplasia/Hypoplasia of the mandible (HP:0009118) help
..expandAsymmetry of the mandible (HP:0009940) help
..expandBroad jaw (HP:0012802) help
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandIncreased size of the mandible (HP:0040309) help
..expandJaw ankylosis (HP:0040263) help
..expandMandibular osteomyelitis (HP:0007626) help
..expandMandibular pain (HP:0200025) help
..expandMandibular prognathia (HP:0000303) help
..expandMidline defect of mandible (HP:0010753) help
..expandNarrow jaw (HP:0012801) help
..expandObtuse angle of mandible (HP:0005446) help
..expandRecurrent mandibular subluxations (HP:0005332) help
..expandTrismus (HP:0000211) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000278HP:0000278Retrognathia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM160523137150
HP:0000278HP:0000278Retrognathia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0000278HP:0000278Retrognathia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000278HP:0000278Retrognathia0ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000278HP:0000278Retrognathia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0000278HP:0000278Retrognathia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000278HP:0000278Retrognathia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM122718037609539
HP:0000278HP:0000278Retrognathia0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0000278HP:0000278Retrognathia0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1131757600582
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H17102397297ORPHA150318318612990
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000278HP:0000278Retrognathia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0000278HP:0000278Retrognathia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0000278HP:0000278Retrognathia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0000278HP:0000278Retrognathia0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM115413221606557
HP:0000278HP:0000278Retrognathia0BIN1 CL E G H274169186ORPHA15521052601248
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0000278HP:0000278Retrognathia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0000278HP:0000278Retrognathia0CDC45 CL E G H83182554ORPHA15671739603465
HP:0000278HP:0000278Retrognathia0CDC6 CL E G H9902554ORPHA11041744602627
HP:0000278HP:0000278Retrognathia0CDT1 CL E G H816202554ORPHA132624576605525
HP:0000278HP:0000278Retrognathia0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM143817272609279
HP:0000278HP:0000278Retrognathia0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM127729086611423
HP:0000278HP:0000278Retrognathia0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM145029298613529
HP:0000278HP:0000278Retrognathia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0000278HP:0000278Retrognathia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0000278HP:0000278Retrognathia0COL1A1 CL E G H12771899ORPHA120162197120150
HP:0000278HP:0000278Retrognathia0COL1A2 CL E G H12781899ORPHA114582198120160
HP:0000278HP:0000278Retrognathia0COX7B CL E G H13492556ORPHA11732291300885
HP:0000278HP:0000278Retrognathia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000278HP:0000278Retrognathia0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0000278HP:0000278Retrognathia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM12172494602618
HP:0000278HP:0000278Retrognathia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM117328005617057
HP:0000278HP:0000278Retrognathia0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000278HP:0000278Retrognathia0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000278HP:0000278Retrognathia0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000278HP:0000278Retrognathia0DHCR24 CL E G H171835107ORPHA12162859606418
HP:0000278HP:0000278Retrognathia0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000278HP:0000278Retrognathia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM110229043612666
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H18553107ORPHA14923084601365
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H18573107ORPHA11893087601368
HP:0000278HP:0000278Retrognathia0EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1523176131240
HP:0000278HP:0000278Retrognathia0EED CL E G H87263447ORPHA1973188605984
HP:0000278HP:0000278Retrognathia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1973188605984
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0000278HP:0000278Retrognathia0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM111963434126340
HP:0000278HP:0000278Retrognathia0ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11313444611888
HP:0000278HP:0000278Retrognathia0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14343519601653
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H21463447ORPHA14163527601573
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0000278HP:0000278Retrognathia0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA135022140611061
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H22002462ORPHA159703603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM159703603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM159703603134797
HP:0000278HP:0000278Retrognathia0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0000278HP:0000278Retrognathia0FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1713806602617
HP:0000278HP:0000278Retrognathia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0000278HP:0000278Retrognathia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM135229007300838
HP:0000278HP:0000278Retrognathia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0000278HP:0000278Retrognathia0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1794019602589
HP:0000278HP:0000278Retrognathia0FZD2 CL E G H25353107ORPHA1804040600667
HP:0000278HP:0000278Retrognathia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0000278HP:0000278Retrognathia0GMNN CL E G H510532554ORPHA15417493602842
HP:0000278HP:0000278Retrognathia0HBA1 CL E G H303998791ORPHA13794823141800
HP:0000278HP:0000278Retrognathia0HBA2 CL E G H304098791ORPHA13334824141850
HP:0000278HP:0000278Retrognathia0HCCS CL E G H30522556ORPHA12184837300056
HP:0000278HP:0000278Retrognathia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM132213315300269
HP:0000278HP:0000278Retrognathia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0000278HP:0000278Retrognathia0HYLS1 CL E G H2198442189ORPHA122926558610693
HP:0000278HP:0000278Retrognathia0HYMAI CL E G H5706196191ORPHA1175326606546
HP:0000278HP:0000278Retrognathia0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H347652055ORPHA11515461300139
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11515461300139
HP:0000278HP:0000278Retrognathia0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0000278HP:0000278Retrognathia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1985466147470
HP:0000278HP:0000278Retrognathia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0000278HP:0000278Retrognathia0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11586144604063
HP:0000278HP:0000278Retrognathia0KAT6B CL E G H235223047ORPHA160517582605880
HP:0000278HP:0000278Retrognathia0KIF7 CL E G H3746542189ORPHA197730497611254
HP:0000278HP:0000278Retrognathia0KLHL7 CL E G H5597597297ORPHA125815646611119
HP:0000278HP:0000278Retrognathia0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM11176404615620
HP:0000278HP:0000278Retrognathia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0000278HP:0000278Retrognathia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000278HP:0000278Retrognathia0LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0000278HP:0000278Retrognathia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM15406717604710
HP:0000278HP:0000278Retrognathia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0000278HP:0000278Retrognathia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM1114920444611472
HP:0000278HP:0000278Retrognathia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0000278HP:0000278Retrognathia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0000278HP:0000278Retrognathia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0000278HP:0000278Retrognathia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0000278HP:0000278Retrognathia0NBN CL E G H4683647ORPHA130747652602667
HP:0000278HP:0000278Retrognathia0NDUFB11 CL E G H545392556ORPHA118020372300403
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784561ORPHA12617788164005
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12617788164005
HP:0000278HP:0000278Retrognathia0NSD1 CL E G H643243447ORPHA1139014234606681
HP:0000278HP:0000278Retrognathia0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0000278HP:0000278Retrognathia0ORC1 CL E G H49982554ORPHA12148487601902
HP:0000278HP:0000278Retrognathia0ORC4 CL E G H50002554ORPHA11668490603056
HP:0000278HP:0000278Retrognathia0ORC6 CL E G H235942554ORPHA113117151607213
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633505237ORPHA17024281612021
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM17024281612021
HP:0000278HP:0000278Retrognathia0PCNT CL E G H51162637HemimegalencephalyORPHA1150516068605925
HP:0000278HP:0000278Retrognathia0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1150516068605925
HP:0000278HP:0000278Retrognathia0PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0000278HP:0000278Retrognathia0PLAGL1 CL E G H532596191ORPHA1329046603044
HP:0000278HP:0000278Retrognathia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM141517264616404
HP:0000278HP:0000278Retrognathia0POLR1C CL E G H9533861ORPHA1126720194610060
HP:0000278HP:0000278Retrognathia0POLR1D CL E G H51082861ORPHA19420422613715
HP:0000278HP:0000278Retrognathia0PREPL CL E G H9581163690ORPHA154930228609557
HP:0000278HP:0000278Retrognathia0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM113125557610087
HP:0000278HP:0000278Retrognathia0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1539557604450
HP:0000278HP:0000278Retrognathia0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1979865180220
HP:0000278HP:0000278Retrognathia0RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM12379891604124
HP:0000278HP:0000278Retrognathia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000278HP:0000278Retrognathia0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM120110360603634
HP:0000278HP:0000278Retrognathia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117210402603474
HP:0000278HP:0000278Retrognathia0RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM15528583610575
HP:0000278HP:0000278Retrognathia0RYR1 CL E G H6261169186ORPHA1506210483180901
HP:0000278HP:0000278Retrognathia0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18610771605593
HP:0000278HP:0000278Retrognathia0SKI CL E G H64972462ORPHA191010896164780
HP:0000278HP:0000278Retrognathia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM18320662608744
HP:0000278HP:0000278Retrognathia0SLC3A1 CL E G H6519163690ORPHA133511025104614
HP:0000278HP:0000278Retrognathia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0000278HP:0000278Retrognathia0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18620318608488
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290169186ORPHA190716901615950
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0000278HP:0000278Retrognathia0SUZ12 CL E G H235123447ORPHA110317101606245
HP:0000278HP:0000278Retrognathia0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000278HP:0000278Retrognathia0TCOF1 CL E G H6949861ORPHA152311654606847
HP:0000278HP:0000278Retrognathia0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA132724519613847
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM154011768190220
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM177811772190181
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM184211773190182
HP:0000278HP:0000278Retrognathia0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM120728128616183
HP:0000278HP:0000278Retrognathia0TMEM70 CL E G H549681194ORPHA125226050612418
HP:0000278HP:0000278Retrognathia0TTN CL E G H7273169186ORPHA12285912403188840
HP:0000278HP:0000278Retrognathia0UBE3B CL E G H899102707ORPHA111013478608047
HP:0000278HP:0000278Retrognathia0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H74743107ORPHA113612784164975
HP:0000278HP:0000278Retrognathia0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM124621143614064
HP:0000278HP:0000278Retrognathia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0000278HP:0000278Retrognathia0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM111012309604500
HP:0000278HP:0000308Microretrognathia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM160523137150
HP:0000278HP:0000308Microretrognathia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1406132102630
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1412144102560
HP:0000278HP:0000308Microretrognathia1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000278HP:0000308Microretrognathia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0000278HP:0000308Microretrognathia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1123649600820
HP:0000278HP:0000308Microretrognathia1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM122718037609539
HP:0000278HP:0000308Microretrognathia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM111116876606036
HP:0000278HP:0000308Microretrognathia1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1131757600582
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H17102397297ORPHA150318318612990
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0000278HP:0000308Microretrognathia1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0000278HP:0000308Microretrognathia1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1123851607027
HP:0000278HP:0000308Microretrognathia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0000278HP:0000308Microretrognathia1BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM115413221606557
HP:0000278HP:0000308Microretrognathia1BIN1 CL E G H274169186ORPHA15521052601248
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM145829426612753
HP:0000278HP:0000308Microretrognathia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0000278HP:0000308Microretrognathia1CDC45 CL E G H83182554ORPHA15671739603465
HP:0000278HP:0000308Microretrognathia1CDC6 CL E G H9902554ORPHA11041744602627
HP:0000278HP:0000308Microretrognathia1CDT1 CL E G H816202554ORPHA132624576605525
HP:0000278HP:0000308Microretrognathia1CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM143817272609279
HP:0000278HP:0000308Microretrognathia1CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM127729086611423
HP:0000278HP:0000308Microretrognathia1CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM145029298613529
HP:0000278HP:0000308Microretrognathia1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0000278HP:0000308Microretrognathia1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0000278HP:0000308Microretrognathia1COL1A1 CL E G H12771899ORPHA120162197120150
HP:0000278HP:0000308Microretrognathia1COL1A2 CL E G H12781899ORPHA114582198120160
HP:0000278HP:0000308Microretrognathia1COX7B CL E G H13492556ORPHA11732291300885
HP:0000278HP:0000308Microretrognathia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000278HP:0000308Microretrognathia1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1802364604237
HP:0000278HP:0000308Microretrognathia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM12172494602618
HP:0000278HP:0000308Microretrognathia1CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM117328005617057
HP:0000278HP:0000308Microretrognathia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000278HP:0000308Microretrognathia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000278HP:0000308Microretrognathia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000278HP:0000308Microretrognathia1DHCR24 CL E G H171835107ORPHA12162859606418
HP:0000278HP:0000308Microretrognathia1DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000278HP:0000308Microretrognathia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM110229043612666
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H18553107ORPHA14923084601365
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H18573107ORPHA11893087601368
HP:0000278HP:0000308Microretrognathia1EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1523176131240
HP:0000278HP:0000308Microretrognathia1EED CL E G H87263447ORPHA1973188605984
HP:0000278HP:0000308Microretrognathia1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1973188605984
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0000278HP:0000308Microretrognathia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM111963434126340
HP:0000278HP:0000308Microretrognathia1ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11313444611888
HP:0000278HP:0000308Microretrognathia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14343519601653
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H21463447ORPHA14163527601573
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0000278HP:0000308Microretrognathia1FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA135022140611061
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H22002462ORPHA159703603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM159703603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM159703603134797
HP:0000278HP:0000308Microretrognathia1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM15173702300163
HP:0000278HP:0000308Microretrognathia1FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1713806602617
HP:0000278HP:0000308Microretrognathia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0000278HP:0000308Microretrognathia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM135229007300838
HP:0000278HP:0000308Microretrognathia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM119924678610966
HP:0000278HP:0000308Microretrognathia1FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1794019602589
HP:0000278HP:0000308Microretrognathia1FZD2 CL E G H25353107ORPHA1804040600667
HP:0000278HP:0000308Microretrognathia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0000278HP:0000308Microretrognathia1GMNN CL E G H510532554ORPHA15417493602842
HP:0000278HP:0000308Microretrognathia1HBA1 CL E G H303998791ORPHA13794823141800
HP:0000278HP:0000308Microretrognathia1HBA2 CL E G H304098791ORPHA13334824141850
HP:0000278HP:0000308Microretrognathia1HCCS CL E G H30522556ORPHA12184837300056
HP:0000278HP:0000308Microretrognathia1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM132213315300269
HP:0000278HP:0000308Microretrognathia1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0000278HP:0000308Microretrognathia1HYLS1 CL E G H2198442189ORPHA122926558610693
HP:0000278HP:0000308Microretrognathia1HYMAI CL E G H5706196191ORPHA1175326606546
HP:0000278HP:0000308Microretrognathia1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H347652055ORPHA11515461300139
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11515461300139
HP:0000278HP:0000308Microretrognathia1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0000278HP:0000308Microretrognathia1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1985466147470
HP:0000278HP:0000308Microretrognathia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0000278HP:0000308Microretrognathia1ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11586144604063
HP:0000278HP:0000308Microretrognathia1KAT6B CL E G H235223047ORPHA160517582605880
HP:0000278HP:0000308Microretrognathia1KIF7 CL E G H3746542189ORPHA197730497611254
HP:0000278HP:0000308Microretrognathia1KLHL7 CL E G H5597597297ORPHA125815646611119
HP:0000278HP:0000308Microretrognathia1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM11176404615620
HP:0000278HP:0000308Microretrognathia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0000278HP:0000308Microretrognathia1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000278HP:0000308Microretrognathia1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM116226636150330
HP:0000278HP:0000308Microretrognathia1LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM15406717604710
HP:0000278HP:0000308Microretrognathia1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0000278HP:0000308Microretrognathia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM1114920444611472
HP:0000278HP:0000308Microretrognathia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0000278HP:0000308Microretrognathia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0000278HP:0000308Microretrognathia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0000278HP:0000308Microretrognathia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0000278HP:0000308Microretrognathia1NBN CL E G H4683647ORPHA130747652602667
HP:0000278HP:0000308Microretrognathia1NDUFB11 CL E G H545392556ORPHA118020372300403
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784561ORPHA12617788164005
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12617788164005
HP:0000278HP:0000308Microretrognathia1NSD1 CL E G H643243447ORPHA1139014234606681
HP:0000278HP:0000308Microretrognathia1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM131213398300275
HP:0000278HP:0000308Microretrognathia1ORC1 CL E G H49982554ORPHA12148487601902
HP:0000278HP:0000308Microretrognathia1ORC4 CL E G H50002554ORPHA11668490603056
HP:0000278HP:0000308Microretrognathia1ORC6 CL E G H235942554ORPHA113117151607213
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633505237ORPHA17024281612021
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM17024281612021
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H51162637HemimegalencephalyORPHA1150516068605925
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1150516068605925
HP:0000278HP:0000308Microretrognathia1PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0000278HP:0000308Microretrognathia1PLAGL1 CL E G H532596191ORPHA1329046603044
HP:0000278HP:0000308Microretrognathia1POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM141517264616404
HP:0000278HP:0000308Microretrognathia1POLR1C CL E G H9533861ORPHA1126720194610060
HP:0000278HP:0000308Microretrognathia1POLR1D CL E G H51082861ORPHA19420422613715
HP:0000278HP:0000308Microretrognathia1PREPL CL E G H9581163690ORPHA154930228609557
HP:0000278HP:0000308Microretrognathia1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM113125557610087
HP:0000278HP:0000308Microretrognathia1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1539557604450
HP:0000278HP:0000308Microretrognathia1RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1979865180220
HP:0000278HP:0000308Microretrognathia1RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM12379891604124
HP:0000278HP:0000308Microretrognathia1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000278HP:0000308Microretrognathia1RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM120110360603634
HP:0000278HP:0000308Microretrognathia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117210402603474
HP:0000278HP:0000308Microretrognathia1RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM15528583610575
HP:0000278HP:0000308Microretrognathia1RYR1 CL E G H6261169186ORPHA1506210483180901
HP:0000278HP:0000308Microretrognathia1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18610771605593
HP:0000278HP:0000308Microretrognathia1SKI CL E G H64972462ORPHA191010896164780
HP:0000278HP:0000308Microretrognathia1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM18320662608744
HP:0000278HP:0000308Microretrognathia1SLC3A1 CL E G H6519163690ORPHA133511025104614
HP:0000278HP:0000308Microretrognathia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0000278HP:0000308Microretrognathia1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18620318608488
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290169186ORPHA190716901615950
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0000278HP:0000308Microretrognathia1SUZ12 CL E G H235123447ORPHA110317101606245
HP:0000278HP:0000308Microretrognathia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000278HP:0000308Microretrognathia1TCOF1 CL E G H6949861ORPHA152311654606847
HP:0000278HP:0000308Microretrognathia1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA132724519613847
HP:0000278HP:0000308Microretrognathia1TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM154011768190220
HP:0000278HP:0000308Microretrognathia1TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0000278HP:0000308Microretrognathia1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM177811772190181
HP:0000278HP:0000308Microretrognathia1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM184211773190182
HP:0000278HP:0000308Microretrognathia1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM120728128616183
HP:0000278HP:0000308Microretrognathia1TMEM70 CL E G H549681194ORPHA125226050612418
HP:0000278HP:0000308Microretrognathia1TTN CL E G H7273169186ORPHA12285912403188840
HP:0000278HP:0000308Microretrognathia1UBE3B CL E G H899102707ORPHA111013478608047
HP:0000278HP:0000308Microretrognathia1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0000278HP:0000308Microretrognathia1WNT5A CL E G H74743107ORPHA113612784164975
HP:0000278HP:0000308Microretrognathia1ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM124621143614064
HP:0000278HP:0000308Microretrognathia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0000278HP:0000308Microretrognathia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM111012309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000278HP:0000278Retrognathia0ACTA2 CL E G H5991387ORPHA0428130102620
HP:0000278HP:0000278Retrognathia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0406132102630
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0412144102560
HP:0000278HP:0000278Retrognathia0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA049219605011
HP:0000278HP:0000278Retrognathia0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM023615672606941
HP:0000278HP:0000278Retrognathia0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA029326837300647
HP:0000278HP:0000278Retrognathia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01431071112262
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA045829426612753
HP:0000278HP:0000278Retrognathia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM031518621606977
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM04923084601365
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01893087601368
HP:0000278HP:0000278Retrognathia0ELN CL E G H200691387ORPHA07633327130160
HP:0000278HP:0000278Retrognathia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM068928957616846
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA04343519601653
HP:0000278HP:0000278Retrognathia0FANCB CL E G H21873412ORPHA05163583300515
HP:0000278HP:0000278Retrognathia0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA0131223109612411
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H220091387ORPHA059703603134797
HP:0000278HP:0000278Retrognathia0FOXE3 CL E G H230191387ORPHA02563808601094
HP:0000278HP:0000278Retrognathia0GLDN CL E G H342035617194Lethal congenital contracture syndrome 11617194C4310670OMIM08529514608603
HP:0000278HP:0000278Retrognathia0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM09929239610621
HP:0000278HP:0000278Retrognathia0LOX CL E G H401591387ORPHA02726664153455
HP:0000278HP:0000278Retrognathia0MAT2A CL E G H414491387ORPHA01646904601468
HP:0000278HP:0000278Retrognathia0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM04863233604267
HP:0000278HP:0000278Retrognathia0MFAP5 CL E G H807691387ORPHA018629673601103
HP:0000278HP:0000278Retrognathia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM010416002609188
HP:0000278HP:0000278Retrognathia0MYH11 CL E G H462991387ORPHA027217569160745
HP:0000278HP:0000278Retrognathia0MYLK CL E G H463891387ORPHA014457590600922
HP:0000278HP:0000278Retrognathia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA05198923606879
HP:0000278HP:0000278Retrognathia0PRKG1 CL E G H559291387ORPHA05269414176894
HP:0000278HP:0000278Retrognathia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA044319129610936
HP:0000278HP:0000278Retrognathia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM047410257602337
HP:0000278HP:0000278Retrognathia0SETBP1 CL E G H26040798ORPHA080415573611060
HP:0000278HP:0000278Retrognathia0SIX1 CL E G H6495107Pneumonia, eosinophilicORPHA015710887601205
HP:0000278HP:0000278Retrognathia0SIX5 CL E G H147912107Pneumonia, eosinophilicORPHA014910891600963
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088284984ORPHA08346769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H408891387ORPHA08346769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM08346769603109
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H704291387ORPHA054011768190220
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H704391387ORPHA046911769190230
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H704691387ORPHA077811772190181
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H704891387ORPHA084211773190182
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM013612784164975
HP:0000278HP:0000308Microretrognathia1ACTA2 CL E G H5991387ORPHA0428130102620
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0406132102630
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0412144102560
HP:0000278HP:0000308Microretrognathia1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA049219605011
HP:0000278HP:0000308Microretrognathia1ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM023615672606941
HP:0000278HP:0000308Microretrognathia1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA029326837300647
HP:0000278HP:0000308Microretrognathia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01431071112262
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA045829426612753
HP:0000278HP:0000308Microretrognathia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM031518621606977
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM04923084601365
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01893087601368
HP:0000278HP:0000308Microretrognathia1ELN CL E G H200691387ORPHA07633327130160
HP:0000278HP:0000308Microretrognathia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM068928957616846
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA04343519601653
HP:0000278HP:0000308Microretrognathia1FANCB CL E G H21873412ORPHA05163583300515
HP:0000278HP:0000308Microretrognathia1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA0131223109612411
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H220091387ORPHA059703603134797
HP:0000278HP:0000308Microretrognathia1FOXE3 CL E G H230191387ORPHA02563808601094
HP:0000278HP:0000308Microretrognathia1GLDN CL E G H342035617194Lethal congenital contracture syndrome 11617194C4310670OMIM08529514608603
HP:0000278HP:0000308Microretrognathia1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM09929239610621
HP:0000278HP:0000308Microretrognathia1LOX CL E G H401591387ORPHA02726664153455
HP:0000278HP:0000308Microretrognathia1MAT2A CL E G H414491387ORPHA01646904601468
HP:0000278HP:0000308Microretrognathia1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM04863233604267
HP:0000278HP:0000308Microretrognathia1MFAP5 CL E G H807691387ORPHA018629673601103
HP:0000278HP:0000308Microretrognathia1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM010416002609188
HP:0000278HP:0000308Microretrognathia1MYH11 CL E G H462991387ORPHA027217569160745
HP:0000278HP:0000308Microretrognathia1MYLK CL E G H463891387ORPHA014457590600922
HP:0000278HP:0000308Microretrognathia1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA05198923606879
HP:0000278HP:0000308Microretrognathia1PRKG1 CL E G H559291387ORPHA05269414176894
HP:0000278HP:0000308Microretrognathia1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA044319129610936
HP:0000278HP:0000308Microretrognathia1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM047410257602337
HP:0000278HP:0000308Microretrognathia1SETBP1 CL E G H26040798ORPHA080415573611060
HP:0000278HP:0000308Microretrognathia1SIX1 CL E G H6495107Pneumonia, eosinophilicORPHA015710887601205
HP:0000278HP:0000308Microretrognathia1SIX5 CL E G H147912107Pneumonia, eosinophilicORPHA014910891600963
HP:0000278HP:0000308Microretrognathia1SMAD3 CL E G H4088284984ORPHA08346769603109
HP:0000278HP:0000308Microretrognathia1SMAD3 CL E G H408891387ORPHA08346769603109
HP:0000278HP:0000308Microretrognathia1SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM08346769603109
HP:0000278HP:0000308Microretrognathia1TGFB2 CL E G H704291387ORPHA054011768190220
HP:0000278HP:0000308Microretrognathia1TGFB3 CL E G H704391387ORPHA046911769190230
HP:0000278HP:0000308Microretrognathia1TGFBR1 CL E G H704691387ORPHA077811772190181
HP:0000278HP:0000308Microretrognathia1TGFBR2 CL E G H704891387ORPHA084211773190182
HP:0000278HP:0000308Microretrognathia1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM013612784164975


Genes (203) :ABAT ACTA1 ACTA2 ACTB ACTG1 ADAMTS2 ADAMTS3 AGRN ALG9 AMER1 AP3D1 ARCN1 ARID2 ARNT2 ASPH ASXL1 ASXL2 ATP6V1A ATPAF2 B3GAT3 BCL11A BIN1 BMP4 CANT1 CCBE1 CCDC88A CDC45 CDC6 CDT1 CENPJ CEP120 CEP135 CEP152 CEP55 CHAT CHST14 CHST3 COG6 COG7 COL13A1 COL1A1 COL1A2 COX7B CREBBP CRIPT CRLF1 CRPPA CTBP1 CTNND2 CTU2 DGCR2 DGCR6 DGCR8 DHCR24 DIS3L2 DSTYK DVL1 DVL3 EBP EDN1 EED EIF4A3 ELN EMC1 EP300 ERCC2 ERF ESS2 EYA1 EZH2 FAM20C FANCB FAT4 FBN1 FHL1 FOXE1 FOXE3 FOXP1 FRMPD4 FTO FUT8 FZD2 GBA GLDN GLI3 GMNN HBA1 HBA2 HCCS HDAC8 HSD17B4 HYLS1 HYMAI IBA57 IGBP1 IGF1R IGF2 INTU ISPD ITGA8 KAT6A KAT6B KIF7 KLHL7 KPTN LAS1L LGI4 LMNA LOX LTBP4 MAGEL2 MAT2A MBD5 MEGF8 MFAP5 MGAT2 MOGS MPLKIP MRPS22 MYH11 MYH7 MYLK MYMK MYO9A NAA10 NBN NDUFB11 NFIX NSD1 NSDHL NSMCE2 OCLN OFD1 ORC1 ORC4 ORC6 OTUD6B PAX1 PCNT PHGDH PIEZO2 PIGN PLAGL1 POLR1A POLR1C POLR1D PREPL PRKG1 PRMT7 PSAT1 PSMD12 PUF60 RARB RBBP8 RNU4ATAC ROR2 RPL10 RPL5 RPS19 RSPO2 RYR1 SEC24D SELENON SEMA5A SETBP1 SF3B4 SIM1 SIN3A SIX1 SIX5 SKI SLC18A3 SLC25A1 SLC25A24 SLC35A3 SLC3A1 SLC5A7 SLC6A9 SMAD3 SMOC1 SNAP25 SPEG SUZ12 SYT2 TAF1 TBX1 TCOF1 TCTN3 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM107 TMEM70 TRIP4 TTN UBE3B VAMP1 WDR35 WNT5A ZBTB24 ZC4H2 ZNHIT3

Diseases (171) :613163 161800 91387 243310 2995 614583 1901 2136 263210 2780 617050 617164 617808 615926 601552 97297 605039 617190 617403 604273 617101 169186 607932 235510 617507 2554 613676 614673 613823 614576 608779 616720 1899 2556 180849 272430 614643 617915 618142 192430 35107 2849 270750 3107 180700 615706 3447 617561 616875 613684 601675 600775 602588 107 277590 1832 3412 2462 616914 154700 300280 1226 613670 300983 612938 618005 608013 617194 98791 300882 261515 2189 96191 615330 52055 300472 270450 616489 617926 191830 3047 615637 309585 617468 212112 613177 615547 156200 614976 212066 606056 234050 611719 254940 647 561 602535 300831 505237 617452 2637 210720 2671 2461 616462 861 163690 617157 617516 615524 251255 2636 268310 612561 105650 618022 798 154400 612289 617301 284984 613795 206920 615959 2753 614816 615582 609192 610168 617563 1194 2707 613610 614069 314580 260565 98914 245600 251450 616300 236500 601776 615789 281 300960 268305 672 616835 457193 616268 200990 324604 276432 300855 617253 251290 311200 613803 615560 280633 508488 300998 618021 616294 1788 171829 613406 615553 300966 614052 616866
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.