TaoMedAI/RareMedData huggingface dataset:
Gene: EIF4A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Phimosis (HP:0001741)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4A2
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Gene: EIF4G1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Gene: EIF4G1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF4G1
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: EIF5A
Phenotype: Microtia (HP:0008551)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Cleft palate (HP:0000175)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Dysphagia (HP:0002015)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Congenital onset (HP:0003577)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Lumbar hemivertebrae (HP:0008439)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Antenatal onset (HP:0030674)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Long ear (HP:0400004)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Premature thelarche (HP:0010314)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Epicanthus (HP:0000286)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Hypoplasia of the lower eyelids (HP:0007697)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Cupped ear (HP:0000378)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Low-set ears (HP:0000369)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Micrognathia (HP:0000347)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Fetal ascites (HP:0001791)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Chronic constipation (HP:0012450)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Pes planus (HP:0001763)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Bulbous nose (HP:0000414)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: EIF5A
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: FAUNDES-BANKA SYNDROME (OMIM:619376)
Gene: ELANE
Phenotype: Sepsis (HP:0100806)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Peritonitis (HP:0002586)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Periodic fever (HP:0032323)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Malaise (HP:0033834)
Associated disease: CYCLIC NEUTROPENIA (OMIM:162800)
Gene: ELANE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CYCLIC NEUTROPENIA (OMIM:162800)
Gene: ELANE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Bone pain (HP:0002653)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Oral ulcer (HP:0000155)
Associated disease: CYCLIC NEUTROPENIA (OMIM:162800)
Gene: ELANE
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Cyclically decreased total neutrophil count (HP:0040289)
Associated disease: CYCLIC NEUTROPENIA (OMIM:162800)
Gene: ELANE
Phenotype: Cyclically decreased total neutrophil count (HP:0040289)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Acute monocytic leukemia (HP:0004845)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Hemangioma (HP:0001028)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Headache (HP:0002315)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Cellulitis (HP:0100658)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Cellulitis (HP:0100658)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Perianal abscess (HP:0009789)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Severe infection (HP:0032169)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Congenital agranulocytosis (HP:0005541)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Bacteremia (HP:0031864)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Decreased total eosinophil count (HP:0031891)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Fever (HP:0001945)
Associated disease: CYCLIC NEUTROPENIA (OMIM:162800)
Gene: ELANE
Phenotype: Fever (HP:0001945)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Leukemia (HP:0001909)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Anemia (HP:0001903)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Enterocolitis (HP:0004387)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Periodontitis (HP:0000704)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Periodontitis (HP:0000704)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Tooth abscess (HP:0030757)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Gingivitis (HP:0000230)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Growth abnormality (HP:0001507)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Fatigue (HP:0012378)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Rhinitis (HP:0012384)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Otitis media (HP:0000388)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Opportunistic infection (HP:0031690)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELANE
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)