TaoMedAI/RareMedData huggingface dataset:
Gene: HSD17B4
Phenotype: Calcific stippling (HP:0002832)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Low-set ears (HP:0000369)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Long philtrum (HP:0000343)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: High forehead (HP:0000348)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Micrognathia (HP:0000347)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Strabismus (HP:0000486)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Fetal ascites (HP:0001791)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hammertoe (HP:0001765)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Pes cavus (HP:0001761)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Visual loss (HP:0000572)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSF4
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: HSF4
Phenotype: Zonular cataract (HP:0010920)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: HSF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: HSF4
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: HSF4
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: HSF4
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Gene: DNAJB2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Dysphonia (HP:0001618)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: DNAJB2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
Gene: HSPA9
Phenotype: Microtia (HP:0008551)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANEMIA, SIDEROBLASTIC, 4 (OMIM:182170)
Gene: HSPA9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Anal atresia (HP:0002023)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Midface retrusion (HP:0011800)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Severe short stature (HP:0003510)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Refractory anemia with ringed sideroblasts (HP:0004828)
Associated disease: ANEMIA, SIDEROBLASTIC, 4 (OMIM:182170)
Gene: HSPA9
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: ANEMIA, SIDEROBLASTIC, 4 (OMIM:182170)
Gene: HSPA9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Hypodontia (HP:0000668)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Synophrys (HP:0000664)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Short nose (HP:0003196)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Sparse hair (HP:0008070)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: High palate (HP:0000218)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Short neck (HP:0000470)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Cataract (HP:0000518)
Associated disease: EVEN-PLUS SYNDROME (OMIM:616854)
Gene: HSPA9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPA9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPA9
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: ANEMIA, SIDEROBLASTIC, 4 (OMIM:182170)
Gene: HSPB1
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Paralysis (HP:0003470)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Late onset (HP:0003584)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Adult onset (HP:0003581)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Fasciculations (HP:0002380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Gene: HSPB1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)