TaoMedAI/RareMedData huggingface dataset:
Gene: ALDH18A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Vomiting (HP:0002013)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Muscle spasm (HP:0003394)
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: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Spastic gait (HP:0002064)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Spastic gait (HP:0002064)
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: Spastic gait (HP:0002064)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Pollakisuria (HP:0100515)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Pollakisuria (HP:0100515)
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: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Babinski sign (HP:0003487)
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: Babinski sign (HP:0003487)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Low back pain (HP:0003419)
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: Impaired vibration sensation in the lower limbs (HP:0002166)
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: Postural tremor (HP:0002174)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Postural tremor (HP:0002174)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Postural instability (HP:0002172)
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: Wide cranial sutures (HP:0010537)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hernia (HP:0100790)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Hernia (HP:0100790)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Enlarged cisterna magna (HP:0002280)
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: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Lower limb hyperreflexia (HP:0002395)
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: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Loss of speech (HP:0002371)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Memory impairment (HP:0002354)
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: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Resting tremor (HP:0002322)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Abnormality of pain sensation (HP:0010832)
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: Premature skin wrinkling (HP:0100678)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Corneal arcus (HP:0001084)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Athetosis (HP:0002305)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Tortuous cerebral arteries (HP:0004938)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Abnormality of the dorsal column of the spinal cord (HP:0011397)
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: Lower limb hypertonia (HP:0006895)
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: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Horizontal nystagmus (HP:0000666)
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: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Short stature (HP:0004322)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Short stature (HP:0004322)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Os odontoideum (HP:0005667)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Focal dystonia (HP:0004373)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Dementia (HP:0000726)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Dementia (HP:0000726)
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: Autistic behavior (HP:0000729)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Psychosis (HP:0000709)
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: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hyperextensible skin (HP:0000974)
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: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Thin skin (HP:0000963)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Sparse hair (HP:0008070)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Growth delay (HP:0001510)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Growth delay (HP:0001510)
Associated disease: AR-SPG9B; Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
Gene: ALDH18A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Broad forehead (HP:0000337)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Mitral regurgitation (HP:0001653)
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: Triangular face (HP:0000325)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Triangular face (HP:0000325)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)