Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of facial skeleton (HP:0011821)

Parent Node:
Abnormal jaw morphology (HP:0030791)

..Starting node
..Abnormality of the mandible (HP:0000277)

Term ID:

277

Name:

Abnormality of the mandible

Synonym:

Abnormality of the lower jaw bone; Abnormality of the mandible; Anomaly of the mandible; Deformity of the lower jaw bone; Deformity of the mandible; Malformation of the lower jaw bone; Malformation of the mandible

Definition:

Any abnormality of the mandible, the bone of the lower jaw.

Comments:

Reference:

HP:0000277

Genes and Diseases:

Child Nodes:

........

Trismus (HP:0000211)

........

Retrognathia (HP:0000278)

................... HP:0000308 Microretrognathia

........

Mandibular prognathia (HP:0000303)

........

Recurrent mandibular subluxations (HP:0005332)

........

Obtuse angle of mandible (HP:0005446)

........

Mandibular osteomyelitis (HP:0007626)

........

Aplasia/Hypoplasia of the mandible (HP:0009118)

................... HP:0000347 Micrognathia
................... HP:0009939 Mandibular aplasia

........

Fibrous syngnathia (HP:0009754)

........

Asymmetry of the mandible (HP:0009940)

........

Midline defect of mandible (HP:0010753)

................... HP:0003779 Antegonial notching of mandible
................... HP:0010752 Cleft mandible

........

Abnormality of the temporomandibular joint (HP:0010754)

................... HP:0012478 Temporomandibular joint ankylosis
................... HP:0012479 Temporomandibular joint crepitus

........

Narrow jaw (HP:0012801)

........

Broad jaw (HP:0012802)

........

Jaw ankylosis (HP:0040263)

........

Increased size of the mandible (HP:0040309)

........

Giant cell granuloma of mandible (HP:0100955)

........

Mandibular pain (HP:0200025)

........

Abnormal mandibular ramus morphology (HP:3000003)

................... HP:0003778 Short mandibular rami

........

Abnormal mandible condylar process morphology (HP:3000077)

................... HP:0005790 Short mandibular condyles

........

Abnormal mandible coronoid process morphology (HP:3000078)

Sister Nodes:

Abnormality of the maxilla (HP:0000326)

Jaw neoplasm (HP:0030792)

Jaw swelling (HP:0030793)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000277	HP:0000277	Abnormality of the mandible	0	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000277	Abnormality of the mandible	0	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0200025	Mandibular pain	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0010754	Abnormality of the temporomandibular joint	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0009940	Asymmetry of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0010753	Midline defect of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0009754	Fibrous syngnathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0009118	Aplasia/Hypoplasia of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:3000077	Abnormal mandible condylar process morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0100955	Giant cell granuloma of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:3000078	Abnormal mandible coronoid process morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0005446	Obtuse angle of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0040263	Jaw ankylosis	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000278	Retrognathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000211	Trismus	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000303	Mandibular prognathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0012802	Broad jaw	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0041155	Fractured mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0012801	Narrow jaw	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0040309	Increased size of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:3000003	Abnormal mandibular ramus morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005332	Recurrent mandibular subluxations	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007626	Mandibular osteomyelitis	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000303	Mandibular prognathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0012802	Broad jaw	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0041155	Fractured mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0012801	Narrow jaw	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0040309	Increased size of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:3000003	Abnormal mandibular ramus morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0005332	Recurrent mandibular subluxations	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007626	Mandibular osteomyelitis	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000211	Trismus	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0200025	Mandibular pain	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0010754	Abnormality of the temporomandibular joint	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0009940	Asymmetry of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0010753	Midline defect of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0009754	Fibrous syngnathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0009118	Aplasia/Hypoplasia of the mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:3000077	Abnormal mandible condylar process morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0100955	Giant cell granuloma of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:3000078	Abnormal mandible coronoid process morphology	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005446	Obtuse angle of mandible	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0040263	Jaw ankylosis	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000278	Retrognathia	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0012478	Temporomandibular joint ankylosis	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0010752	Cleft mandible	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000347	Micrognathia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0003778	Short mandibular rami	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0000308	Microretrognathia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0032328	Temporomandibular joint adhesion	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0003779	Antegonial notching of mandible	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0012479	Temporomandibular joint crepitus	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0009939	Mandibular aplasia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0032328	Temporomandibular joint adhesion	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0003779	Antegonial notching of mandible	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0012479	Temporomandibular joint crepitus	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0009939	Mandibular aplasia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0012478	Temporomandibular joint ankylosis	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0010752	Cleft mandible	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000347	Micrognathia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0003778	Short mandibular rami	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000308	Microretrognathia	2	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0003778	Short mandibular rami	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000308	Microretrognathia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0410219	Hypoplasia of mandible relative to maxilla	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0000308	Microretrognathia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0410219	Hypoplasia of mandible relative to maxilla	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0003778	Short mandibular rami	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	3	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0005790	Short mandibular condyles	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	4	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	5	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	5	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833
HP:0000277	HP:0007628	Mandibular condyle hypoplasia	5	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	262	8979	171833
HP:0000277	HP:0007627	Mandibular condyle aplasia	5	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile	ORPHA	0	307	8979	171833

Genes (721) :A2ML1 ABAT ABCC9 ABCD4 ACAN ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL4 ADGRG6 AEBP1 AGA AGPAT2 AGRN AHDC1 AIMP2 AIP AKT1 ALG1 ALG9 ALX4 AMER1 AMMECR1 ANK1 ANKH ANKLE2 ANKRD11 ANO5 ANTXR1 AP1S2 AP3D1 AP4M1 APC APC2 ARCN1 ARID1B ARID2 ARL6IP6 ARNT2 ARVCF ARX ASNS ASPH ASXL1 ASXL2 ATAD3A ATP6V1A ATP6V1B2 ATP7A ATPAF2 ATR ATRIP ATRX AXIN2 B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BANF1 BAZ1B BCL11A BCL11B BDNF BICD2 BIN1 BMP4 BMPER BPTF BRAF BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 BUB1 BUB1B BUB3 C12ORF57 C1R C1S CA2 CACNA1G CANT1 CASK CAV1 CAVIN1 CC2D2A CCBE1 CCDC22 CCDC88A CCNK CD96 CDC45 CDC6 CDC73 CDCA7 CDH11 CDK5 CDT1 CENPE CENPJ CEP120 CEP135 CEP152 CEP290 CEP55 CEP57 CFL2 CHAT CHD7 CHN1 CHRNA1 CHRND CHRNE CHRNG CHST14 CHST3 CHUK CLCF1 CLCN4 CLCN7 CLIP2 CNTNAP1 COASY COG1 COG4 COG6 COG7 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMT COX7B CPLANE1 CPLX1 CREBBP CRIPT CRLF1 CRPPA CSNK2A1 CSPP1 CTBP1 CTDP1 CTNND2 CTSK CTU2 CUL4B CUL7 CWC27 CXORF56 D2HGDH DCHS1 DDR2 DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DIS3L2 DNA2 DNAJC21 DNMT3B DOCK3 DOCK6 DOK7 DPAGT1 DPH1 DPM1 DPM2 DPYD DSTYK DVL1 DVL3 DYM DYNC2H1 DYRK1A DZIP1L EBP ECEL1 EDA EDARADD EDN1 EDNRA EED EFEMP2 EFTUD2 EHMT1 EIF4A3 ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 ESS2 EXT1 EXT2 EYA1 EZH2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FLCN FLII FLNA FLNB FLVCR2 FMR1 FOS FOXE1 FOXE3 FOXG1 FOXP1 FRMPD4 FTO FUT8 FZD2 GALNS GATA4 GBA GFPT1 GHR GJA1 GLB1 GLDN GLE1 GLI3 GMNN GNAI3 GNAS GNPAT GNPTAB GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GSC GTF2I GTF2IRD1 H19 HACD1 HBA1 HBA2 HCCS HDAC6 HDAC8 HELLS HERC1 HERC2 HIRA HMGA2 HNF1B HNF4A HNRNPH2 HNRNPU HOXB1 HRAS HSD17B4 HSPG2 HYLS1 HYMAI HYOU1 IBA57 ICK IDUA IFT43 IFT80 IGBP1 IGF1 IGF1R IGF2 IGFALS IL1RAPL1 IMPAD1 INSR INTU IQSEC2 IRF6 IRX5 ITGA7 ITGA8 JMJD1C KAT6A KAT6B KBTBD13 KCNH1 KCNJ2 KCNJ6 KCTD1 KDM5C KDM6A KIAA0586 KIAA0753 KIF11 KIF14 KIF7 KLHL41 KLHL7 KMT2A KNL1 KPTN KRAS LAGE3 LAMA2 LAMB2 LAS1L LBR LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LMNA LMOD3 LOX LRP4 LRP5 LRP6 LTBP3 LTBP4 LZTR1 MAD2L2 MAF MAFB MAGEL2 MAN2B1 MAP2K1 MAP3K20 MAP3K7 MAPRE2 MAT2A MBD5 MCTP2 MECP2 MED12 MEGF8 MFAP5 MGAT2 MITF MKS1 MMP2 MOGS MPLKIP MRPS22 MSTO1 MSX1 MUSK MYCN MYH11 MYH3 MYH7 MYH8 MYL2 MYLK MYMK MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NBN NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NFIX NHS NIPBL NOTCH2 NOTCH3 NRAS NSD1 NSD2 NSDHL NSMCE2 NSUN2 NUP107 NXN OCLN OCRL OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD6B OTX2 P4HB PAH PALB2 PAX1 PAX3 PAX6 PAX9 PCNT PDE4D PDE6D PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM1 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGN PIGV PIK3CA PIK3R1 PKHD1 PLA2G6 PLAA PLAGL1 PLCB4 PLK4 PLXND1 PNKD POC1A POGZ POLD1 POLR1A POLR1C POLR1D POLR3A POMGNT1 PPARG PPP1R15B PQBP1 PREPL PRKAR1A PRKG1 PRMT7 PRRT2 PRRX1 PSAT1 PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PUF60 PUS1 PYCR1 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RECQL4 RERE REV3L RFC2 RFT1 RFWD3 RHOBTB2 RIPK4 RIT1 RLIM RNF113A RNF125 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL10 RPL5 RPS19 RPS26 RPS28 RPS6KA3 RRAS RREB1 RSPO2 RUNX2 RUSC2 RYR1 SATB2 SC5D SCN9A SEC24C SEC24D SELENON SEMA3E SEMA5A SERPINH1 SETBP1 SETD2 SETD5 SF3B4 SFRP4 SH2B1 SH3BP2 SH3PXD2B SHOX SIM1 SIN3A SIX1 SIX5 SKI SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC2A10 SLC35A3 SLC3A1 SLC5A7 SLC6A17 SLC6A8 SLC6A9 SLC9A6 SLX4 SMAD3 SMAD4 SMC1A SMC3 SMOC1 SMS SNAP25 SNIP1 SNRPB SOS1 SOS2 SOST SOX18 SOX9 SP7 SPECC1L SPEG SPRED1 SPRTN SRY SSR4 STAC3 STRA6 SUFU SUMO1 SUZ12 SYT2 TAB2 TAF1 TAPT1 TAZ TBC1D20 TBC1D7 TBCD TBCE TBL2 TBX1 TBX15 TBX4 TCOF1 TCTN2 TCTN3 TENT5A TFAP2A TGDS TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM216 TMEM231 TMEM67 TMEM70 TNFSF11 TNNI2 TNNT3 TOE1 TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRIO TRIP11 TRIP13 TRIP4 TRPS1 TSR2 TTN TUBB TUBB3 TWIST1 TWIST2 TXNL4A UBA1 UBE2T UBE3A UBE3B UFD1 UPF3B VAC14 VAMP1 VARS VPS13B VPS33B WASHC5 WDPCP WDR26 WDR34 WDR35 WDR4 WDR60 WDR73 WHCR WNT10A WNT10B WNT3 WNT5A WNT7A WT1 XRCC2 XRCC4 YARS2 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZMPSTE24 ZNF335 ZNF341 ZNHIT3

Diseases (754) :3163 613163 171866 612813 161800 91387 243310 2995 614583 1901 225410 2136 521445 1885 93 528 608594 98914 618006 963 263210 2780 123000 53697 2067 304340 617050 612936 261584 821 617169 617164 617808 615926 601552 97297 605039 617190 496790 617183 617403 604273 617101 169186 607932 269700 2785 618087 235510 617507 618147 2554 99880 143 1299 211380 613676 614673 613823 608931 300114 53 166600 614576 608779 616720 1899 616583 98915 2556 180849 272430 614643 617915 618142 300354 273750 301013 819 615828 192430 35107 2849 618292 270750 3107 180700 223800 137888 615706 616367 3447 617561 610253 616875 613684 601675 133540 216400 600775 502 602588 107 277590 1832 259775 3412 2462 616914 154700 166250 101600 87 168624 101200 1540 123500 85165 300280 610883 300048 309350 908 300624 1226 261144 613670 300983 612938 618005 253000 230900 608013 218400 2710 253010 617194 562 252600 2078 231070 373 98791 300882 617011 615516 93111 261515 800 2189 96191 615330 607016 52055 300472 270450 616489 300143 769 262190 617926 1300 119500 191830 3047 135500 181270 300534 152950 615637 258 309585 617468 3206 212112 614305 2790 178377 3416 607636 601216 613177 601088 615547 248500 156200 614976 212066 606056 234050 611719 617675 601680 193700 324604 608837 3377 158300 254940 647 561 602535 614753 627 117550 300831 534 300486 505237 617452 894 148820 193500 2637 210720 280651 950 614613 2671 2461 239300 98810 614813 616364 616462 861 309500 163690 101800 617157 617516 377 109400 2658 2969 151100 611554 611553 182290 615524 251255 268400 300953 616260 2636 268310 435938 300998 612561 105650 303600 618022 1452 617773 167400 798 616831 154400 265900 184 137834 2963 612289 616269 300352 617301 85278 300243 284984 613795 2588 139210 206920 309583 614501 122860 269500 137940 615959 302060 248000 2753 131300 614816 615582 609192 610168 617563 1194 259710 108120 617731 209885 608572 105830 2707 300676 613610 259050 614069 314580 260565 648 965 614857 171439 2020 171436 2604 616503 618000 615829 615109 608540 52022 300373 300990 251066 616681 261250 230740 251056 1556 567 452 300215 615574 3473 565 808 210600 309580 99798 271640 245600 709 261540 564 614008 904 617237 893 618291 608022 529962 115150 163950 614498 84 1052 257300 1777 218340 75392 251450 163937 300749 7 211750 1308 613805 2268 616342 613804 616051 616300 236500 614114 214800 233 608930 253290 2990 265000 601776 613630 1545 618186 616286 618266 611209 618150 174 250984 440354 560 154780 604841 166100 614524 3450 215150 75840 259420 485 93296 2500 2754 277170 194190 615789 617062 397715 48431 281 265800 250410 600721 601390 271665 602398 818 270400 263750 246 267000 615807 617052 242860 614219 994 208150 86309 608093 616901 608799 615042 293948 616331 616894 93271 614104 731 300960 615065 614437 79113 610536 268305 1270 211180 242840 607598 1466 610758 610756 616570 214150 1143 75857 3103 268300 269000 52429 615546 284979 121050 90024 610706 2645 313855 614592 3472 216340 90652 1826 305620 2484 304120 56305 108720 108721 225790 93328 251071 633 257850 1486 253310 672 616835 602483 222765 93329 258315 2570 602471 180860 163966 3459 199 94063 300986 238769 614744 218040 1865 224410 255800 236680 233600 612651 607015 614099 73272 608747 140941 614078 617925 611174 457193 616268 85201 606170 603736 170390 435628 614098 300867 616258 200990 614120 615731 604321 2065 301006 1426 215140 280 601559 99812 235 1662 280365 79474 740 176670 275210 248370 212780 2774 166300 2505 616734 1596 300055 776 305450 300895 309520 617306 249000 259600 502423 164280 1147 1358 616549 276432 300855 616266 615419 251260 3253 617201 2751 617022 122470 955 102500 2789 130720 308050 436182 617253 616730 1507 251290 2750 311200 224690 613800 613803 617729 259720 990 112240 2050 2209 615560 601812 742 912 214100 614887 614866 614882 214110 215100 614921 256520 617991 616531 616843 114300 248700 300868 2059 280633 614080 615108 269880 256600 521426 617527 616171 570 615381 248390 613717 264090 253280 616817 93946 202650 616038 79350 151050 109 158350 50945 215045 156400 508488 2598 600462 617258 2510 614222 201000 1387 600118 212720 1713 1587 606744 311900 3320 274000 1225 218600 616975 612015 618004 1234 263650 300978 210710 613309 606164 3301 618021 119600 251019 612313 46059 607330 616294 613848 615761 1788 245 261197 249420 314795 249700 171829 613406 182212 99742 607196 628 93298 56304 256050 208050 615553 613951 300590 610759 1106 1393 117650 718 140 114290 613849 145410 611431 616200 1772 300934 255995 601186 228410 300966 616897 617193 241410 2323 1727 188400 260660 147891 154500 258860 617952 113620 616145 1388 60030 213980 614052 614969 1071 616777 617061 93299 616866 77258 190350 300946 156610 300570 617746 1145 301830 244450 617802 193 216550 208085 220210 617616 251300 273395 2879 36367 612337 90154 608612 615095 618282 614669

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

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