TaoMedAI/RareMedData huggingface dataset:
Gene: TRAPPC2L
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: TRAPPC2L
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Gene: PADI3
Phenotype: Trichodysplasia (HP:0002552)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Gene: PADI3
Phenotype: Woolly hair (HP:0002224)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Pili canaliculi (HP:0002235)
Associated disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Gene: PADI3
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Coarse hair (HP:0002208)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Dry hair (HP:0011359)
Associated disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Gene: PADI3
Phenotype: White hair (HP:0011364)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Childhood onset (HP:0011463)
Associated disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Gene: PADI3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Gene: PADI3
Phenotype: Uncombable hair (HP:0030056)
Associated disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Gene: ACSL5
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Vomiting (HP:0002013)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: ACSL5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: DIARRHEA 13 (OMIM:620357)
Gene: GPRC5B
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Dysarthria (HP:0001260)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Spasticity (HP:0001257)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Dystonia (HP:0001332)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Dysphagia (HP:0002015)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Rigidity (HP:0002063)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Motor deterioration (HP:0002333)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Cerebral subcortical cyst (HP:6000461)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Clumsiness (HP:0002312)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Depression (HP:0000716)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Dementia (HP:0000726)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: GPRC5B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Gene: RAB23
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Syndactyly (HP:0001159)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Tall stature (HP:0000098)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Hydroureter (HP:0000072)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Coxa valga (HP:0002673)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Polydactyly (HP:0010442)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Complete duplication of proximal phalanx of the thumb (HP:0009608)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Duplication of the proximal phalanx of the hallux (HP:0010093)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Short palm (HP:0004279)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Broad thumb (HP:0011304)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Short stature (HP:0004322)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Preauricular pit (HP:0004467)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Precocious puberty (HP:0000826)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Sacral dimple (HP:0000960)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Epicanthus (HP:0000286)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Oxycephaly (HP:0000263)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Turricephaly (HP:0000262)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Narrow face (HP:0000275)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Malar flattening (HP:0000272)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Abnormal reproductive system morphology (HP:0012243)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Lateral displacement of patellae (HP:0006397)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: High palate (HP:0000218)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Genu valgum (HP:0002857)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Genu valgum (HP:0002857)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Omphalocele (HP:0001539)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Obesity (HP:0001513)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: RAB23
Phenotype: Obesity (HP:0001513)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB23
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CARPENTER SYNDROME 1 (OMIM:201000)
Gene: RAB23
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB23
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)