TaoMedAI/RareMedData huggingface dataset:
Gene: ASAH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Arthritis (HP:0001369)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Arthritis (HP:0001369)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Joint swelling (HP:0001386)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Periarticular subcutaneous nodules (HP:0007470)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Periarticular subcutaneous nodules (HP:0007470)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Abnormal larynx morphology (HP:0025423)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Gowers sign (HP:0003391)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Diffuse reticular or finely nodular infiltrations (HP:0002207)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Atelectasis (HP:0100750)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Facial palsy (HP:0010628)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Paraparesis (HP:0002385)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Progressive (HP:0003676)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Skin nodule (HP:0200036)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Mutism (HP:0002300)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: CNS foam cells (HP:0003640)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Decreased acid ceramidase activity (HP:0034053)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Anemia (HP:0001903)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Short stature (HP:0004322)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Irritability (HP:0000737)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Dementia (HP:0000726)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Osteolysis involving bones of the feet (HP:0009134)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Gene: ASAH1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Lipogranulomatosis (HP:0040139)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Short finger (HP:0009381)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Arthralgia (HP:0002829)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Myoclonic status epilepticus (HP:0032667)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Ascites (HP:0001541)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Intrahepatic cholestasis with episodic jaundice (HP:0006575)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hoarse cry (HP:0001615)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Weak cry (HP:0001612)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Loss of voice (HP:0001686)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Gene: ASAH1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: High-frequency sensorineural hearing impairment (HP:0001757)
Associated disease: Hereditary myoclonus-progressive distal muscular atrophy syndrome; Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Gene: ASAH1
Phenotype: Abnormal epiglottis morphology (HP:0005483)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Short toe (HP:0001831)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASAH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Farber lipogranulomatosis; Acid ceramidase deficiency; Farber disease (ORPHA:333)
Gene: ASCL1
Phenotype: Seizure (HP:0001250)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: ASCL1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)