TaoMedAI/RareMedData huggingface dataset:
Gene: MIR17HG
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: ASTL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 (OMIM:619643)
Gene: ASTL
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 (OMIM:619643)
Gene: ASTL
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 (OMIM:619643)
Gene: ALG11
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Hypertonia (HP:0001276)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Death in childhood (HP:0003819)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Floppy infant (HP:0008947)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Temperature instability (HP:0005968)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Temperature instability (HP:0005968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Opisthotonus (HP:0002179)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Dry skin (HP:0000958)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Retrognathia (HP:0000278)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: High forehead (HP:0000348)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: High forehead (HP:0000348)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
Gene: ALG11
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: ALG11
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Congenital disorder of glycosylation type 1p; CDG1P; Carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; ALG11-CDG; Congenital disorder of glycosylation type Ip; CDG syndrome type Ip (ORPHA:280071)
Gene: CCDC88C
Phenotype: Seizure (HP:0001250)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Intention tremor (HP:0002080)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Scanning speech (HP:0002168)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: CCDC88C
Phenotype: Second trimester onset (HP:0034198)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Gene: CCDC88C
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Gene: CCDC88C
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Gene: EIF2AK4
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Hemothorax (HP:0012151)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pulmonary capillary hemangiomatosis (HP:0005954)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Pulmonary capillary hemangiomatosis (HP:0005954)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Abnormal pulmonary vein morphology (HP:0030968)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pedal edema (HP:0010741)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Gene: EIF2AK4
Phenotype: Cyanosis (HP:0000961)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Gene: EIF2AK4
Phenotype: Pulmonary venous occlusion (HP:0006518)
Associated disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)