TaoMedAI/RareMedData huggingface dataset:
Gene: TP63
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Epispadias (HP:0000039)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Micropenis (HP:0000054)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Micropenis (HP:0000054)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Abnormal clitoris morphology (HP:0000056)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hypospadias (HP:0000047)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Hypospadias (HP:0000047)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hypospadias (HP:0000047)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Megacystis (HP:0000021)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Decreased number of sweat glands (HP:0007500)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Cleft hard palate (HP:0410005)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Anhidrotic ectodermal dysplasia (HP:0007476)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Lymphoma (HP:0002665)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Absence of Stensen duct (HP:0000198)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Bifid uvula (HP:0000193)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Bifid uvula (HP:0000193)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Oligodactyly (HP:0012165)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Cleft palate (HP:0000175)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Transverse vaginal septum (HP:0000145)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Freckling (HP:0001480)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Freckling (HP:0001480)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Freckling (HP:0001480)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Supernumerary maxillary incisor (HP:0006332)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Cleft lip (HP:0410030)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Cleft lip (HP:0410030)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Cleft lip (HP:0410030)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Renal agenesis (HP:0000104)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Anal stenosis (HP:0002025)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Dysphagia (HP:0002015)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Precocious puberty in females (HP:0010465)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Streak ovary (HP:0010464)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Aplasia of the ovary (HP:0010463)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Infantile onset (HP:0003593)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Pili canaliculi (HP:0002235)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Fine hair (HP:0002213)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Fine hair (HP:0002213)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Fine hair (HP:0002213)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Coarse hair (HP:0002208)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Small, conical teeth (HP:0200141)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Progressive alopecia (HP:0002287)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Fair hair (HP:0002286)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Fair hair (HP:0002286)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Corneal erosion (HP:0200020)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Gene: TP63
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Gene: TP63
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TP63
Phenotype: Duplication of hand bones (HP:0004275)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Blue irides (HP:0000635)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of metatarsal bones (HP:0001964)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Photophobia (HP:0000613)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Photophobia (HP:0000613)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Entropion (HP:0000621)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Conical tooth (HP:0000698)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Conical tooth (HP:0000698)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Taurodontia (HP:0000679)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Taurodontia (HP:0000679)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Oligodontia (HP:0000677)
Associated disease: ADULT SYNDROME (OMIM:103285)