Phenotype: Absent facial hair (HP:0002550)
Associated genes and diseases:
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: SOX18
disease_id: ORPHA:69735
disease_name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
gene_symbol: TP63
disease_id: OMIM:106260
disease_name: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
gene_symbol: PKP1
disease_id: OMIM:604536
disease_name: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: LRP1
disease_id: OMIM:604093
disease_name: KERATOSIS PILARIS ATROPHICANS
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: ANAPC1
disease_id: OMIM:618625
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 1
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: HR
disease_id: ORPHA:701
disease_name: Alopecia universalis
gene_symbol: HR
disease_id: OMIM:203655
disease_name: ALOPECIA UNIVERSALIS CONGENITA
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: FGF10
disease_id: OMIM:620193
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 3
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: NECTIN4
disease_id: OMIM:613573
disease_name: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
gene_symbol: AR
disease_id: OMIM:300068
disease_name: ANDROGEN INSENSITIVITY SYNDROME
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE