Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
..Starting node
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Abnormal conjunctiva morphology (HP:0000502)help
Term ID: 502
Name: Abnormal conjunctiva morphology
Synonym:
Definition: An abnormality of the conjunctiva.
Comments:
Reference: HP:0000502
Genes and Diseases:
 
       Child Nodes:
........expandConjunctivitis (HP:0000509) help
................... HP:0001096 Keratoconjunctivitis
................... HP:0007717 Chronic irritative conjunctivitis
................... HP:0007879 Allergic conjunctivitis
........expandEpibulbar dermoid (HP:0001140) help
........expandBitot spots of the conjunctiva (HP:0007462) help
........expandConjunctival whitish salt-like deposits (HP:0007799) help
........expandAbnormal vasculature of the conjunctiva morphology (HP:0008054) help
................... HP:0000503 Tortuosity of conjunctival vessels
................... HP:0000524 Conjunctival telangiectasia
................... HP:0007721 Saccular conjunctival dilatations
........expandConjunctival nodule (HP:0009903) help
........expandConjunctival amyloidosis (HP:0010637) help
........expandChemosis (HP:0012375) help
........expandConjunctival lipoma (HP:0012549) help
........expandConjunctival papillae (HP:0030946) help
................... HP:0025350 Giant conjunctival papillae
........expandConjunctival follicles (HP:0030947) help
................... HP:0500039 Conjunctival cicatrization
........expandConjunctival hyperemia (HP:0030953) help
................... HP:0025338 Circumlimbal hyperemia
........expandPinguecula (HP:0031830) help
........expandConjunctival hamartoma (HP:0100780) help
........expandDefect of palpebral conjunctiva (HP:0430011) help
........expandConjunctival dermolipoma (HP:0500070) help

 Sister Nodes: 
..expandAbnormal common tendinous ring morphology (HP:0030671) help
..expandAbnormal eyebrow morphology (HP:0000534) help
..expandAbnormal eyelid morphology (HP:0000492) help
..expandAbnormal nasolacrimal system morphology (HP:0000614) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000502HP:0000502Abnormal conjunctiva morphology0KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11186416148066
HP:0000502HP:0000502Abnormal conjunctiva morphology0PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11049005601542
HP:0000502HP:0000502Abnormal conjunctiva morphology1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11186416148066
HP:0000502HP:0000502Abnormal conjunctiva morphology1PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11049005601542
HP:0000502HP:0000502Abnormal conjunctiva morphology2KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11186416148066
HP:0000502HP:0000502Abnormal conjunctiva morphology2PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11049005601542
HP:0000502HP:0000502Abnormal conjunctiva morphology3KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11186416148066
HP:0000502HP:0000502Abnormal conjunctiva morphology3PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11049005601542
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (120) :ACVRL1 AIRE AKT1 ANO10 ATM B2M BLNK BTD BTK BTNL2 C4A CCR1 CD19 CD79A CD79B COL7A1 CR2 CTSA DACT1 DDB2 DKC1 DNASE1L3 ENG ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF FAS FERMT1 FGFR1 FGFR2 FOXC2 FOXE3 FUCA1 GALNT3 GATA1 GDF2 GJB2 GJB6 GLA GNAQ GNAS HLA-B HLA-DRB1 HLCS ICOS IGHM IGLL1 IGSF3 IKZF1 IL10 IL12A IL12A-AS1 IL23R KLLN KLRC4 KRAS KRT1 KRT10 KRT14 LBR LMNA LRBA LRRC8A MANBA MASP1 MBTPS2 MEFV MPLKIP NLRC4 NLRP1 NLRP3 PCNA PEX6 PIK3CA PIK3R1 PITX2 PITX3 PLG POLH PSMB4 PSMB8 PSMB9 PTEN RAG1 RAG2 RNF125 RNF168 SALL1 SAMD9 SCN9A SDHB SDHC SDHD SEC23B SETX SLC39A4 SLC52A2 SMAD4 STAT4 STX16 TCF3 TFRC TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TNXB TP63 UBAC2 UROS USB1 WAS WIPF1 XPA XPC ZMPSTE24

Diseases (97) :125595 180550 201 176920 33110 253260 47 300755 307200 240500 613493 612692 226600 857 278740 305000 36412 278730 278800 207 2908 613001 123500 33001 153400 211900 129500 94089 79443 79444 36426 607594 601495 149700 3339 312 614700 2273 308800 47045 575 191900 120100 148200 217090 278750 617591 256040 2969 601457 610455 37 616740 32960 142680 103285 106260 263700 604173 906 278700 278720 774 600376 240300 284289 208900 79241 256540 910 187300 230000 79277 324 3205 79242 248510 257920 615919 95433 97231 420741 606002 69085 314652 797 117 601675 88632 148210 779 740 234050 617388 616260 133020 285
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.