Human Phenotype Ontology 
Grandparent Node:
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Abnormal external nose morphology (HP:0010938)help
Parent Node:
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Abnormal nasal dorsum morphology (HP:0011119)help
..Starting node
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Depressed nasal ridge (HP:0000457)help
Term ID: 457
Name: Depressed nasal ridge
Synonym: Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge
Definition: Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Comments:
Reference: HP:0000457
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConcave nasal ridge (HP:0011120) help
..expandConvex nasal ridge (HP:0000444) help
..expandLarge beaked nose (HP:0003683) help
..expandNarrow nasal ridge (HP:0000418) help
..expandWide nasal ridge (HP:0012811) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000457HP:0000457Depressed nasal ridge0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0000457HP:0000457Depressed nasal ridge0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040281 - Very frequent130
HP:0000457HP:0000457Depressed nasal ridge0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000457HP:0000457Depressed nasal ridge0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0000457HP:0000457Depressed nasal ridge0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000457HP:0000457Depressed nasal ridge0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000457HP:0000457Depressed nasal ridge0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0000457HP:0000457Depressed nasal ridge0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0000457HP:0000457Depressed nasal ridge0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0000457HP:0000457Depressed nasal ridge0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0000457HP:0000457Depressed nasal ridge0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000457HP:0000457Depressed nasal ridge0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000457HP:0000457Depressed nasal ridge0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000457HP:0000457Depressed nasal ridge0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000457HP:0000457Depressed nasal ridge0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000457HP:0000457Depressed nasal ridge0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000457HP:0000457Depressed nasal ridge0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000457HP:0000457Depressed nasal ridge0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0000457HP:0000457Depressed nasal ridge0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0000457HP:0000457Depressed nasal ridge0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0000457HP:0000457Depressed nasal ridge0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0000457HP:0000457Depressed nasal ridge0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000457HP:0000457Depressed nasal ridge0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000457HP:0000457Depressed nasal ridge0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000457HP:0000457Depressed nasal ridge0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000457HP:0000457Depressed nasal ridge0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000457HP:0000457Depressed nasal ridge0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000457HP:0000457Depressed nasal ridge0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000457HP:0000457Depressed nasal ridge0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000457HP:0000457Depressed nasal ridge0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000457HP:0000457Depressed nasal ridge0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000457HP:0000457Depressed nasal ridge0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000457HP:0000457Depressed nasal ridge0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare4
HP:0000457HP:0000457Depressed nasal ridge0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0000457HP:0000457Depressed nasal ridge0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0000457HP:0000457Depressed nasal ridge0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional86
HP:0000457HP:0000457Depressed nasal ridge0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional56
HP:0000457HP:0000457Depressed nasal ridge0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040281 - Very frequent27
HP:0000457HP:0000457Depressed nasal ridge0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0000457HP:0000457Depressed nasal ridge0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent2
HP:0000457HP:0000457Depressed nasal ridge0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000457HP:0000457Depressed nasal ridge0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000457HP:0000457Depressed nasal ridge0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000457HP:0000457Depressed nasal ridge0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000457HP:0000457Depressed nasal ridge0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000457HP:0000457Depressed nasal ridge0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000457HP:0000457Depressed nasal ridge0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000457HP:0000457Depressed nasal ridge0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000457HP:0000457Depressed nasal ridge0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000457HP:0000457Depressed nasal ridge0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000457HP:0000457Depressed nasal ridge0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000457HP:0000457Depressed nasal ridge0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000457HP:0000457Depressed nasal ridge0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000457HP:0000457Depressed nasal ridge0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000457HP:0000457Depressed nasal ridge0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000457HP:0000457Depressed nasal ridge0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent1
HP:0000457HP:0000457Depressed nasal ridge0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0000457HP:0000457Depressed nasal ridge0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040283 - Occasional98
HP:0000457HP:0000457Depressed nasal ridge0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0000457HP:0000457Depressed nasal ridge0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000457HP:0000457Depressed nasal ridge0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0000457HP:0000457Depressed nasal ridge0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000457HP:0000457Depressed nasal ridge0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000457HP:0000457Depressed nasal ridge0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000457HP:0000457Depressed nasal ridge0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000457HP:0000457Depressed nasal ridge0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000457HP:0000457Depressed nasal ridge0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0000457HP:0000457Depressed nasal ridge0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0000457HP:0000457Depressed nasal ridge0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0000457HP:0000457Depressed nasal ridge0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0000457HP:0000457Depressed nasal ridge0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0000457HP:0000457Depressed nasal ridge0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000457HP:0000457Depressed nasal ridge0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent4
HP:0000457HP:0000457Depressed nasal ridge0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional1
HP:0000457HP:0000457Depressed nasal ridge0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000457HP:0000457Depressed nasal ridge0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0000457HP:0000457Depressed nasal ridge0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040282 - Frequent106
HP:0000457HP:0000457Depressed nasal ridge0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000457HP:0000457Depressed nasal ridge0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000457HP:0000457Depressed nasal ridge0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000457HP:0000457Depressed nasal ridge0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0000457HP:0000457Depressed nasal ridge0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0000457HP:0000457Depressed nasal ridge0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0000457HP:0000457Depressed nasal ridge0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0000457HP:0000457Depressed nasal ridge0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0000457HP:0000457Depressed nasal ridge0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000457HP:0000457Depressed nasal ridge0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0000457HP:0000457Depressed nasal ridge0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0000457HP:0000457Depressed nasal ridge0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0000457HP:0000457Depressed nasal ridge0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000457HP:0000457Depressed nasal ridge0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare563
HP:0000457HP:0000457Depressed nasal ridge0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0000457HP:0000457Depressed nasal ridge0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000457HP:0000457Depressed nasal ridge0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0000457HP:0000457Depressed nasal ridge0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0000457HP:0000457Depressed nasal ridge0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0000457HP:0000457Depressed nasal ridge0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0000457HP:0000457Depressed nasal ridge0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0000457HP:0000457Depressed nasal ridge0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000457HP:0000457Depressed nasal ridge0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000457HP:0000457Depressed nasal ridge0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000457HP:0000457Depressed nasal ridge0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000457HP:0000457Depressed nasal ridge0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000457HP:0000457Depressed nasal ridge0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000457HP:0000457Depressed nasal ridge0RET CL E G H59799967ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent572
HP:0000457HP:0000457Depressed nasal ridge0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0000457HP:0000457Depressed nasal ridge0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000457HP:0000457Depressed nasal ridge0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000457HP:0000457Depressed nasal ridge0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000457HP:0000457Depressed nasal ridge0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000457HP:0000457Depressed nasal ridge0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000457HP:0000457Depressed nasal ridge0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000457HP:0000457Depressed nasal ridge0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000457HP:0000457Depressed nasal ridge0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000457HP:0000457Depressed nasal ridge0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0000457HP:0000457Depressed nasal ridge0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0000457HP:0000457Depressed nasal ridge0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000457HP:0000457Depressed nasal ridge0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040283 - Occasional94
HP:0000457HP:0000457Depressed nasal ridge0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0000457HP:0000457Depressed nasal ridge0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000457HP:0000457Depressed nasal ridge0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000457HP:0000457Depressed nasal ridge0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000457HP:0000457Depressed nasal ridge0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000457HP:0000457Depressed nasal ridge0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000457HP:0000457Depressed nasal ridge0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000457HP:0000457Depressed nasal ridge0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000457HP:0000457Depressed nasal ridge0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0000457HP:0000457Depressed nasal ridge0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000457HP:0000457Depressed nasal ridge0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000457HP:0000457Depressed nasal ridge0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000457HP:0000457Depressed nasal ridge0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0000457HP:0000457Depressed nasal ridge0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000457HP:0000457Depressed nasal ridge0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000457HP:0000457Depressed nasal ridge0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000457HP:0000457Depressed nasal ridge0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000457HP:0000457Depressed nasal ridge0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000457HP:0000457Depressed nasal ridge0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000457HP:0000457Depressed nasal ridge0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional
HP:0000457HP:0000457Depressed nasal ridge0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0000457HP:0000457Depressed nasal ridge0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040281 - Very frequent7
HP:0000457HP:0000457Depressed nasal ridge0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000457HP:0000457Depressed nasal ridge0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000457HP:0000457Depressed nasal ridge0WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0000457HP:0000457Depressed nasal ridge0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000457HP:0000457Depressed nasal ridge0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000457HP:0000457Depressed nasal ridge0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000457HP:0000457Depressed nasal ridge0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34


Genes (121) :AASS ABCA12 ALX4 ARSL ATRX B9D1 B9D2 BMPER BUB1 BUB1B BUB3 CASZ1 CC2D2A CDON CEP290 CEP57 CHRNA1 CHRND CHRNG CNOT3 CREBBP CSPP1 DISP1 DLL1 DZIP1L EDA EDA2R EDAR EDARADD EFNB1 FAM20C FGF20 FGF8 FGFR1 FOXA2 FOXH1 GABRD GAS1 GFRA1 GH1 GHR GLB1 GLI2 GLI3 GMNN GREB1L HDAC6 HESX1 HSPA9 HSPG2 ITGA8 KCNAB2 KDF1 LBR LHX4 LMBR1 LUZP1 MAN2B1 MBD5 MKS1 MMP23B MN1 MYH3 NALCN NODAL OTX2 PAX3 PAX7 PDE4D PDPN PEPD PEX12 PIGL PKHD1 PLCH1 POU1F1 PRDM16 PRKAR1A PRKCZ PRMT7 PROP1 PSAT1 PTCH1 PTPN11 RERE RET RMRP RPGRIP1 RPGRIP1L RPS19 SHH SIX3 SKI SKIC3 SLC35C1 SMC1A SNAP29 SOX3 SOX9 SPEN STAG2 STIL TBX1 TCTN1 TCTN2 TCTN3 TDGF1 TFAP2B TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAF6 TRIP13 TWIST2 TXNDC15 UBE4B WNT9B ZIC2

Diseases (58) :ORPHA:2203 ORPHA:457 OMIM:613451 ORPHA:79345 ORPHA:847 ORPHA:564 OMIM:608022 ORPHA:1052 ORPHA:1606 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:253290 OMIM:618672 OMIM:618332 ORPHA:731 ORPHA:181 ORPHA:1810 ORPHA:1520 ORPHA:1832 ORPHA:1848 ORPHA:95494 OMIM:262400 ORPHA:633 OMIM:230500 ORPHA:672 OMIM:616835 OMIM:300863 ORPHA:163966 OMIM:616854 OMIM:215140 ORPHA:2378 OMIM:248500 OMIM:156200 OMIM:618774 ORPHA:2053 ORPHA:1529 OMIM:618578 ORPHA:950 ORPHA:742 OMIM:266510 ORPHA:3474 ORPHA:464288 ORPHA:90695 OMIM:616038 OMIM:151100 ORPHA:175 OMIM:105650 OMIM:222470 ORPHA:99843 ORPHA:66631 OMIM:114290 ORPHA:1727 OMIM:613885 ORPHA:2753 ORPHA:46627 ORPHA:1807
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.