TaoMedAI/RareMedData huggingface dataset:
Gene: TP63
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Microdontia (HP:0000691)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Microdontia (HP:0000691)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Microdontia (HP:0000691)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Dental malocclusion (HP:0000689)
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: Widely spaced teeth (HP:0000687)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Carious teeth (HP:0000670)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Carious teeth (HP:0000670)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Carious teeth (HP:0000670)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Hypodontia (HP:0000668)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Short stature (HP:0004322)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Short stature (HP:0004322)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Malnutrition (HP:0004395)
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: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Childhood onset (HP:0011463)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Maternal teratogenic exposure (HP:0011438)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Abnormal Eustachian tube morphology (HP:0040115)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 21 (OMIM:620311)
Gene: TP63
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Bilateral breast hypoplasia (HP:0012814)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Bilateral cleft palate (HP:0100337)
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: Unilateral cleft palate (HP:0100334)
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: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Gene: TP63
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Palate fistula (HP:0010294)
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: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Hypoplastic sacrum (HP:0004590)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Lip pit (HP:0100267)
Associated disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
Gene: TP63
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Dry skin (HP:0000958)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Dry skin (HP:0000958)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Dry skin (HP:0000958)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Dry skin (HP:0000958)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Dry skin (HP:0000958)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Thin skin (HP:0000963)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Thin skin (HP:0000963)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Thin skin (HP:0000963)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Sparse hair (HP:0008070)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Sparse hair (HP:0008070)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Chronic irritative conjunctivitis (HP:0007717)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Alopecia (HP:0001596)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Alopecia (HP:0001596)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Malar flattening (HP:0000272)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Malar flattening (HP:0000272)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Uncombable hair (HP:0030056)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Macrodontia (HP:0001572)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Velopharyngeal insufficiency (HP:0000220)
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: Xerostomia (HP:0000217)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Xerostomia (HP:0000217)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Omphalocele (HP:0001539)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Orofacial cleft (HP:0000202)
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: Orofacial cleft (HP:0000202)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Camptodactyly (HP:0012385)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Abnormal number of permanent teeth (HP:0011044)
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: Abnormal pinna morphology (HP:0000377)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: TP63
Phenotype: Hypernasal speech (HP:0001611)
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: Abnormal dental morphology (HP:0006482)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: High forehead (HP:0000348)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: TP63
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Hypoplasia of the maxilla (HP:0000327)
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: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)