Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated genes and diseases:
gene_symbol: C1S
disease_id: ORPHA:75392
disease_name: Periodontal Ehlers-Danlos syndrome
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
gene_symbol: C1R
disease_id: ORPHA:75392
disease_name: Periodontal Ehlers-Danlos syndrome
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
gene_symbol: WNT10A
disease_id: OMIM:150400
disease_name: TOOTH AGENESIS, SELECTIVE, 4
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: LRP6
disease_id: OMIM:616724
disease_name: TOOTH AGENESIS, SELECTIVE, 7
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:618333
disease_name: MENKE-HENNEKAM SYNDROME 2
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: RAD51
disease_id: OMIM:617244
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP R
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: RIC1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: NECTIN1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLG1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: CDH1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: PDGFRA
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: IRF6
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: DLX4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: MSX1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: BMP4
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: TP63
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: COBLL1
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGEF38
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP
gene_symbol: ARHGAP29
disease_id: ORPHA:199306
disease_name: Cleft lip/palate
Alveolar cleft lip and palate
Cleft lip and palate
Cleft lip-alveolus-palate syndrome
FLP