Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the hairline (HP:0009553)help
Parent Node:
expand
Abnormality of the neck (HP:0000464)help
Parent Node:
expand
Abnormality of the posterior hairline (HP:0030141)help
..Starting node
..expand
Low posterior hairline (HP:0002162)help
Term ID: 2162
Name: Low posterior hairline
Synonym: Low hairline at back of neck; Low posterior hair line
Definition: Hair on the neck extends more inferiorly than usual.
Comments:
Reference: HP:0002162
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHigh posterior hairline (HP:0012891) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002162HP:0002162Low posterior hairline0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0002162HP:0002162Low posterior hairline0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0002162HP:0002162Low posterior hairline0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0002162HP:0002162Low posterior hairline0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0002162HP:0002162Low posterior hairline0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0002162HP:0002162Low posterior hairline0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0002162HP:0002162Low posterior hairline0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0002162HP:0002162Low posterior hairline0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H673648ORPHA1684901097164757
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0002162HP:0002162Low posterior hairline0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0002162HP:0002162Low posterior hairline0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0002162HP:0002162Low posterior hairline0CHN1 CL E G H1123233D ercole syndromeORPHA1111111943118423
HP:0002162HP:0002162Low posterior hairline0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0002162HP:0002162Low posterior hairline0COL25A1 CL E G H84570233D ercole syndromeORPHA144118603610004
HP:0002162HP:0002162Low posterior hairline0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0002162HP:0002162Low posterior hairline0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0002162HP:0002162Low posterior hairline0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0002162HP:0002162Low posterior hairline0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0002162HP:0002162Low posterior hairline0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0002162HP:0002162Low posterior hairline0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0002162HP:0002162Low posterior hairline0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0002162HP:0002162Low posterior hairline0GDF3 CL E G H95732345ORPHA16664218606522
HP:0002162HP:0002162Low posterior hairline0GDF6 CL E G H3922552345ORPHA1211654221601147
HP:0002162HP:0002162Low posterior hairline0GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM1211654221601147
HP:0002162HP:0002162Low posterior hairline0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0002162HP:0002162Low posterior hairline0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0002162HP:0002162Low posterior hairline0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123229239610621
HP:0002162HP:0002162Low posterior hairline0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0002162HP:0002162Low posterior hairline0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0002162HP:0002162Low posterior hairline0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0002162HP:0002162Low posterior hairline0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0002162HP:0002162Low posterior hairline0KRAS CL E G H3845648ORPHA1452746407190070
HP:0002162HP:0002162Low posterior hairline0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0002162HP:0002162Low posterior hairline0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0002162HP:0002162Low posterior hairline0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0002162HP:0002162Low posterior hairline0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0002162HP:0002162Low posterior hairline0MAFB CL E G H9935233D ercole syndromeORPHA1251056408608968
HP:0002162HP:0002162Low posterior hairline0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0002162HP:0002162Low posterior hairline0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0002162HP:0002162Low posterior hairline0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0002162HP:0002162Low posterior hairline0MEOX1 CL E G H42222345ORPHA14397013600147
HP:0002162HP:0002162Low posterior hairline0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0002162HP:0002162Low posterior hairline0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1613818150607295
HP:0002162HP:0002162Low posterior hairline0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0002162HP:0002162Low posterior hairline0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0002162HP:0002162Low posterior hairline0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0002162HP:0002162Low posterior hairline0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0002162HP:0002162Low posterior hairline0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0002162HP:0002162Low posterior hairline0NRAS CL E G H4893648ORPHA1141817989164790
HP:0002162HP:0002162Low posterior hairline0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0002162HP:0002162Low posterior hairline0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0002162HP:0002162Low posterior hairline0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0002162HP:0002162Low posterior hairline0PHF8 CL E G H23133300263Siderius X-linked mental retardation syndrome300263C1846055OMIM11620820672300560
HP:0002162HP:0002162Low posterior hairline0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0002162HP:0002162Low posterior hairline0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0002162HP:0002162Low posterior hairline0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0002162HP:0002162Low posterior hairline0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0002162HP:0002162Low posterior hairline0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0002162HP:0002162Low posterior hairline0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0002162HP:0002162Low posterior hairline0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0002162HP:0002162Low posterior hairline0RASA2 CL E G H5922648ORPHA13739872601589
HP:0002162HP:0002162Low posterior hairline0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0002162HP:0002162Low posterior hairline0RRAS CL E G H6237648ORPHA127510447165090
HP:0002162HP:0002162Low posterior hairline0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0002162HP:0002162Low posterior hairline0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0002162HP:0002162Low posterior hairline0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0002162HP:0002162Low posterior hairline0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0002162HP:0002162Low posterior hairline0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0002162HP:0002162Low posterior hairline0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0002162HP:0002162Low posterior hairline0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0002162HP:0002162Low posterior hairline0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM17236220249609291
HP:0002162HP:0002162Low posterior hairline0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14424516974611421
HP:0002162HP:0002162Low posterior hairline0TBX15 CL E G H691393333ORPHA153811594604127
HP:0002162HP:0002162Low posterior hairline0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0002162HP:0002162Low posterior hairline0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0002162HP:0002162Low posterior hairline0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0002162HP:0002162Low posterior hairline0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0002162HP:0002162Low posterior hairline0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0002162HP:0002162Low posterior hairline0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0002162HP:0002162Low posterior hairline0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0002162HP:0002162Low posterior hairline0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM1117520342300576
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002162HP:0002162Low posterior hairline0APC CL E G H324261584ORPHA019517734583611731
HP:0002162HP:0002162Low posterior hairline0CHRNG CL E G H11462990ORPHA0351601967100730
HP:0002162HP:0002162Low posterior hairline0IGF1 CL E G H347973272ORPHA0131675464147440
HP:0002162HP:0002162Low posterior hairline0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113
HP:0002162HP:0002162Low posterior hairline0PHF8 CL E G H2313385287ORPHA01620820672300560
HP:0002162HP:0002162Low posterior hairline0SRY CL E G H67361772ORPHA01099611311480000
HP:0002162HP:0002162Low posterior hairline0XYLT2 CL E G H6413285194ORPHA0135715517608125


Genes (74) :A2ML1 ABCC9 ACTB ACTG1 ALDOA ANKRD11 APC B3GAT3 BRAF CCDC22 CHN1 CHRNG CHST3 COL25A1 CPLX1 CREBBP CTBP1 EFNB1 EP300 FGFRL1 GDF3 GDF6 GNE HDAC8 IGF1 INTU IRX5 KAT6B KCNJ8 KMT2A KRAS LETM1 LZTR1 MAFB MAP2K1 MAP2K2 MEOX1 MYO18B NANS NELFA NF1 NIPBL NOTCH3 NRAS NSD2 PEPD PHF8 PPP1CB PTPN11 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RRAS SETD5 SHOC2 SLC25A24 SMC1A SMC3 SOS1 SOS2 SPRED1 SRCAP SRY TBX15 TFAP2A TMCO1 UBE2A WASHC5 WHCR XYLT2 ZDHHC15

Diseases (49) :648 1517 243310 2995 611881 148050 261584 245600 1340 163950 300963 233 2990 194190 180849 1520 304110 2345 118100 269921 199 73272 617925 611174 280 214300 616549 610442 601321 122470 2789 170100 85287 300263 2701 1387 612289 611431 136140 1772 93333 113620 1394 213980 300860 220210 85194 605822 300577
 

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