TaoMedAI/RareMedData huggingface dataset:
Gene: FGFRL1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: High forehead (HP:0000348)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Strabismus (HP:0000486)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Webbed neck (HP:0000465)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Proptosis (HP:0000520)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: FGFRL1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: MYO3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 30 (OMIM:607101)
Gene: MYO3A
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 30 (OMIM:607101)
Gene: MYO3A
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 30 (OMIM:607101)
Gene: BRWD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: BRWD1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Gene: TSPEAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
Gene: TSPEAR
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
Gene: TSPEAR
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Oligodontia (HP:0000677)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Microcephaly (HP:0000252)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: High palate (HP:0000218)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Low-set ears (HP:0000369)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: Narrow forehead (HP:0000341)
Associated disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Gene: TSPEAR
Phenotype: Oval face (HP:0000300)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
Gene: TSPEAR
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: TSPEAR
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Gene: RIPK4
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Microtia (HP:0008551)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Motor delay (HP:0001270)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Ataxia (HP:0001251)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hydroureter (HP:0000072)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Absent external genitalia (HP:0000042)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Micropenis (HP:0000054)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHAND SYNDROME (OMIM:214350)
Gene: RIPK4
Phenotype: Absent radius (HP:0003974)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Oligodactyly (HP:0012165)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Cleft palate (HP:0000175)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Inferiorly positioned umbilicus (HP:0032527)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Commissural lip pit (HP:0002710)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Commissural lip pit (HP:0002710)
Associated disease: CHAND SYNDROME (OMIM:214350)
Gene: RIPK4
Phenotype: Anal stenosis (HP:0002025)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Anal atresia (HP:0002023)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Tessier cleft (HP:0002006)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Skin tags (HP:0010609)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CHAND SYNDROME (OMIM:214350)
Gene: RIPK4
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Curly hair (HP:0002212)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Curly hair (HP:0002212)
Associated disease: CHAND SYNDROME (OMIM:214350)
Gene: RIPK4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Atelectasis (HP:0100750)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Agenesis of maxillary incisor (HP:0200160)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Pterygium (HP:0001059)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Skin erosion (HP:0200041)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Absent thumb (HP:0009777)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Absent thumb (HP:0009777)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Short thumb (HP:0009778)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: CHAND SYNDROME (OMIM:214350)
Gene: RIPK4
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Ectropion (HP:0000656)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Fetal onset (HP:0011461)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Short nose (HP:0003196)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Oral synechia (HP:0010285)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Dry skin (HP:0000958)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Dry skin (HP:0000958)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)