Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of head or neck (HP:0000152)help
Parent Node:
expand
Abnormality of the head (HP:0000234)help
..Starting node
..expand
Abnormal scalp morphology (HP:0001965)help
Term ID: 1965
Name: Abnormal scalp morphology
Synonym: Abnormality of the scalp; Anomaly of scalp
Definition: Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
Comments:
Reference: HP:0001965
Genes and Diseases:
 
       Child Nodes:
........expandProminent scalp veins (HP:0001043) help
........expandCutis gyrata of scalp (HP:0010541) help
........expandAbnormality of the scalp hair (HP:0100037) help
................... HP:0002209 Sparse scalp hair
................... HP:0002293 Alopecia of scalp
................... HP:0009553 Abnormality of the hairline
................... HP:0040057 Abnormality of nasal hair
................... HP:0100038 Slow-growing scalp hair
........expandScalp tenderness (HP:0100809) help

 Sister Nodes: 
..expandAbnormal glossopharyngeal nerve morphology (HP:3000047) help
..expandAbnormal great auricular nerve morphology (HP:3000048) help
..expandAbnormal lingual nerve morphology (HP:3000075) help
..expandAbnormal skull morphology (HP:0000929) help
..expandAbnormality of head blood vessel (HP:3000036) help
..expandAbnormality of inferior alveolar nerve (HP:3000055) help
..expandAbnormality of infra-orbital nerve (HP:3000061) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the face (HP:0000271) help
..expandAbnormality of the pharynx (HP:0000600) help
..expandFixed head retroflexion (HP:0031178) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001965HP:0001965Abnormal scalp morphology0KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0010541Cutis gyrata of scalp1KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0100037Abnormality of the scalp hair1KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0100809Scalp tenderness1KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0001043Prominent scalp veins1KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0009553Abnormality of the hairline2KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0002293Alopecia of scalp2KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0002209Sparse scalp hair2KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0100038Slow-growing scalp hair2KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0030141Abnormality of the posterior hairline3KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0009554Preauricular hair displacement3KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0004768Sparse anterior scalp hair3KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0000599Abnormality of the frontal hairline3KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0004552Scarring alopecia of scalp3KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0009890High anterior hairline4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0004768Sparse anterior scalp hair4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0005325Extension of hair growth on temples to lateral eyebrow4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0002162Low posterior hairline4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0000294Low anterior hairline4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0012891High posterior hairline4KCTD1 CL E G H2842522036ORPHA112518249613420
HP:0001965HP:0000349Widow's peak5KCTD1 CL E G H2842522036ORPHA112518249613420
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001965HP:0001965Abnormal scalp morphology0FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0100037Abnormality of the scalp hair1FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0100809Scalp tenderness1FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0001043Prominent scalp veins1FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0010541Cutis gyrata of scalp1FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0002209Sparse scalp hair2FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0100038Slow-growing scalp hair2FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0009553Abnormality of the hairline2FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0002293Alopecia of scalp2FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0009554Preauricular hair displacement3FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0004768Sparse anterior scalp hair3FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0004552Scarring alopecia of scalp3FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0000599Abnormality of the frontal hairline3FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0030141Abnormality of the posterior hairline3FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0009890High anterior hairline4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0004768Sparse anterior scalp hair4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0005325Extension of hair growth on temples to lateral eyebrow4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0002162Low posterior hairline4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0000294Low anterior hairline4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0012891High posterior hairline4FLI1 CL E G H2313370348ORPHA02233749193067
HP:0001965HP:0000349Widow's peak5FLI1 CL E G H2313370348ORPHA02233749193067


Genes (230) :A2ML1 ABCC9 ACD ACTB ACTG1 ADNP AHSG ALDOA ALX1 ALX3 ANKRD11 ANTXR1 APC ARID1A ARID1B ARX ASXL1 ATP6V1B2 ATR ATRIP AXIN2 B3GALT6 B3GAT3 B4GALT7 BRAF BRCA1 CBS CCDC22 CCNK CDH1 CDH3 CDSN CENPE CENPJ CEP152 CHN1 CHRNG CHST3 CLDN1 COG7 COL17A1 COL25A1 COL3A1 COL7A1 CPLX1 CREBBP CTBP1 DKC1 DLX4 DOCK6 DOCK7 DSC3 EBP ECM1 EDARADD EFNB1 EMC1 EP300 EPS8L3 ERMARD EXT1 FAS FGD1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FRAS1 FRMD4A GDF3 GDF6 GJB2 GJB6 GNE HDAC4 HDAC8 HLA-DRA HPGD HR HSPG2 IFIH1 IGF1 INTU IRX5 ITGA3 ITGB4 ITGB6 JUP KANK2 KAT6B KCNJ8 KCTD1 KIF1BP KLHL24 KLHL7 KMT2A KRAS KREMEN1 KRT14 KRT17 KRT25 KRT74 LAMA3 LAMB3 LAMC2 LETM1 LIG4 LMNA LPAR6 LRP2 LRPPRC LZTR1 MAF MAFB MAN2B1 MAP2K1 MAP2K2 MAP3K7 MBTPS2 MEIS2 MEOX1 MID1 MMP1 MYO18B NANS NBN NECTIN4 NELFA NF1 NHP2 NIPBL NOP10 NOTCH2 NOTCH3 NRAS NSD1 NSD2 NSUN2 OCRL PACS1 PARN PCNT PEPD PEX1 PEX19 PEX6 PHF8 PLEC PLK4 POLR1C POLR1D POLR3A PPP1CB PRKD1 PTDSS1 PTPN11 PTPN22 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RBBP8 RIN2 RIT1 RNU4ATAC RRAS RTEL1 SETD2 SETD5 SH2B1 SHOC2 SIN3A SLC12A6 SLC25A24 SLC35C1 SLC39A4 SLCO2A1 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SOS1 SOS2 SOX18 SPECC1L SPINK5 SPRED1 SRCAP SRY TAF6 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCOF1 TECPR2 TERT TFAP2A THOC6 TINF2 TMCO1 TP63 TRAIP TRPS1 TSC1 TTC7A TWIST1 UBE2A UBR1 VAC14 VPS13B WASHC5 WHCR WNT10A WNT4 WRN XRCC4 XYLT2 ZBTB20 ZC4H2 ZDHHC15 ZIC1 ZMPSTE24

Diseases (203) :370348 2036 230740 2796 740 264090 151050 3322 2850 614607 135900 808 608615 75496 271640 130070 394 1897 1573 225280 146520 130050 613102 530 614941 444 502 3437 3472 216340 189 1001 505 614748 34217 616099 85201 606170 66629 617294 125595 167210 616760 613981 235 248370 278150 601088 613573 224230 534 210720 614886 2701 617364 217335 210710 607721 612289 201100 601358 614609 614608 616938 69735 634 256500 978 103285 604292 436252 243800 257980 902 259050 59303 79402 79408 35173 602540 308800 226670 154500 191100 648 1517 243310 2995 615873 611881 148050 261584 300004 97297 605039 245600 1340 163950 617883 300963 618147 119580 233 2990 608779 194190 180849 616788 614219 615859 1520 304110 616875 75857 915 794 101400 602849 219000 466688 616819 2345 118100 269921 199 300882 800 182250 73272 617925 611174 617392 280 99812 220111 248500 617137 600987 214300 616549 610442 647 601321 122470 955 2789 117550 615009 742 170100 3220 85287 300263 861 614222 1387 614225 616831 261222 94065 613406 218000 2095 300590 610759 610733 611431 136140 1772 617126 615663 79500 602342 93333 618223 615314 320385 615031 113620 613680 1394 213980 300860 193 220210 247768 85194 605822 314580 300577 616602 306542 391474 136760 616455 305400 2143 300000 266265 1519 145420 145410 617746
 

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