TaoMedAI/RareMedData huggingface dataset:
Gene: CDK13
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Telecanthus (HP:0000506)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: CDK13
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
Gene: PDE8B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Dysarthria (HP:0001260)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Slurred speech (HP:0001350)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Tremor (HP:0001337)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 (OMIM:614190)
Gene: PDE8B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Rigidity (HP:0002063)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 (OMIM:614190)
Gene: PDE8B
Phenotype: Middle age onset (HP:0003596)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Symmetric T2-signal increase with T1-signal decrease in the putamen (HP:0007039)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Hypokinesia (HP:0002375)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Slowly progressive (HP:0003677)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: PDE8B
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Autosomal dominant striatal neurodegeneration; ADSD (ORPHA:228169)
Gene: PDE8B
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 (OMIM:614190)
Gene: PDE8B
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 (OMIM:609161)
Gene: RFXANK
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Sepsis (HP:0100806)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Dysarthria (HP:0001260)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Decreased circulating beta-2-microglobulin level (HP:0025347)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Diarrhea (HP:0002014)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Chronic hepatitis due to cryptosporidium infection (HP:0200124)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Cytomegalovirus colitis (HP:0033431)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Childhood onset (HP:0011463)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Young adult onset (HP:0011462)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Skin rash (HP:0000988)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Reduced MHC II cell surface expression (HP:0031390)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Sinusitis (HP:0000246)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Rhinitis (HP:0012384)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Acute otitis media (HP:0000371)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Autoimmunity (HP:0002960)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Gene: RFXANK
Phenotype: Pancytopenia (HP:0001876)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: RFXANK
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Split hand (HP:0001171)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Syndactyly (HP:0001159)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Syndactyly (HP:0001159)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Syndactyly (HP:0001159)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Syndactyly (HP:0001159)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Pili torti (HP:0003777)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 4 (OMIM:605289)
Gene: TP63
Phenotype: Microtia (HP:0008551)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Nevus (HP:0003764)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TP63
Phenotype: Absent nipple (HP:0002561)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Absent nipple (HP:0002561)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Absent nipple (HP:0002561)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ADULT SYNDROME (OMIM:103285)
Gene: TP63
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: LIMB-MAMMARY SYNDROME (OMIM:603543)
Gene: TP63
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Limb-mammary syndrome; LMS (ORPHA:69085)
Gene: TP63
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: TP63
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Acro-dermato-ungual-lacrimal-tooth syndrome; Pigment anomaly-ectrodactyly-hypodontia syndrome; ADULT syndrome (ORPHA:978)
Gene: TP63
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Vaginal dryness (HP:0031088)
Associated disease: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (OMIM:106260)
Gene: TP63
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TP63
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Urethral atresia (HP:0000068)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: RAPP-HODGKIN SYNDROME (OMIM:129400)
Gene: TP63
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: TP63
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: EEC syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1896)
Gene: TP63
Phenotype: Hydroureter (HP:0000072)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Ureterocele (HP:0000070)
Associated disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (OMIM:604292)
Gene: TP63
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)