TaoMedAI/RareMedData huggingface dataset:
Gene: PYCR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Growth delay (HP:0001510)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Broad forehead (HP:0000337)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Triangular face (HP:0000325)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Triangular face (HP:0000325)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Microcornea (HP:0000482)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Narrow nose (HP:0000460)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Pes planus (HP:0001763)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Pes planus (HP:0001763)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Cataract (HP:0000518)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Talipes (HP:0001883)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALDH18A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Primitive reflex (HP:0002476)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hypoornithinemia (HP:0500163)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Hypoprolinemia (HP:0500139)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Sporadic (HP:0003745)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Anarthria (HP:0002425)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Dysfunction of lateral corticospinal tracts (HP:0007299)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Motor delay (HP:0001270)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Seizure (HP:0001250)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Seizure (HP:0001250)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALDH18A1-related De Barsy syndrome; Neurocutaneous syndrome, Bicknell type; Delta-1-pyrroline 5-carboxylate synthetase deficiency; P5CS deficiency (ORPHA:35664)
Gene: ALDH18A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALDH18A1-related De Barsy syndrome; Neurocutaneous syndrome, Bicknell type; Delta-1-pyrroline 5-carboxylate synthetase deficiency; P5CS deficiency (ORPHA:35664)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Spasticity (HP:0001257)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Flat sella turcica (HP:0100857)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Impaired continence (HP:0031064)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Falls (HP:0002527)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ALDH18A1-related De Barsy syndrome; Neurocutaneous syndrome, Bicknell type; Delta-1-pyrroline 5-carboxylate synthetase deficiency; P5CS deficiency (ORPHA:35664)
Gene: ALDH18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Urinary retention (HP:0000016)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Urinary retention (HP:0000016)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Absent speech (HP:0001344)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Tremor (HP:0001337)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Tremor (HP:0001337)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)