TaoMedAI/RareMedData huggingface dataset:
Gene: RMRP
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Atlantoaxial dislocation (HP:0003414)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Small epiphyses (HP:0010585)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Fine hair (HP:0002213)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Large face (HP:0100729)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Fair hair (HP:0002286)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Severe short stature (HP:0003510)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Congenital hypoplastic anemia (HP:0004810)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Small hand (HP:0200055)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Short palm (HP:0004279)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Short palm (HP:0004279)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Short palm (HP:0004279)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Anemia (HP:0001903)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Anemia (HP:0001903)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Microdontia (HP:0000691)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Hypodontia (HP:0000668)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Short stature (HP:0004322)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Second trimester onset (HP:0034198)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Short long bone (HP:0003026)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Mesomelia (HP:0003027)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Heart block (HP:0012722)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Childhood onset (HP:0011463)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Narrow chest (HP:0000774)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Narrow chest (HP:0000774)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Prominent sternum (HP:0000884)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Hip contracture (HP:0003273)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Short thorax (HP:0010306)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Sparse hair (HP:0008070)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Sparse hair (HP:0008070)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Short finger (HP:0009381)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Aplasia/Hypoplasia affecting the eye (HP:0008056)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Coxa vara (HP:0002812)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Gene: RMRP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RMRP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Flaring of lower rib cage (HP:0006589)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Flaring of lower rib cage (HP:0006589)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CARTILAGE-HAIR HYPOPLASIA (OMIM:250250)
Gene: RMRP
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: ANAUXETIC DYSPLASIA 1 (OMIM:607095)
Gene: RMRP
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RMRP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Cartilage-hair hypoplasia; Metaphyseal chondrodysplasia, McKusick type; Autosomal recessive metaphyseal chondrodysplasia (ORPHA:175)
Gene: RMRP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RMRP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)