TaoMedAI/RareMedData huggingface dataset:
Gene: HAAO
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Short stature (HP:0004322)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Unilateral vocal cord paresis (HP:0012821)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Microcephaly (HP:0000252)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HAAO
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HAAO
Phenotype: Talipes (HP:0001883)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (OMIM:617660)
Gene: HAAO
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MACF1
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Spasticity (HP:0001257)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Spasticity (HP:0001257)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Absent speech (HP:0001344)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Enlarged tectum (HP:0034405)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Short stature (HP:0004322)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Hypoplastic anterior commissure (HP:0030303)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Abnormality of the anterior commissure (HP:0030301)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Strabismus (HP:0000486)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: MACF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Gene: MACF1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Gene: DAAM2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Renal cortical hyperechogenicity (HP:0033132)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: DAAM2
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Gene: DAAM2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ZFYVE26
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)
Gene: ZFYVE26
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hereditary spastic paraparesis type 15; Autosomal recessive spastic paraplegia type 15; SPG15; Spastic paraplegia-retinal degeneration syndrome; Kjellin syndrome (ORPHA:100996)