Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 30 38
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C1578482 Valgus deformities of feet disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 7 7
C4023808 Hyperextensibility at elbow phenotype Anatomical Abnormality Abnormality of the skeletal system 7 7
C0410264 Contracture of tendo achilles disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 6 6
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5 5
C1096086 Deformity of lower limb disease Anatomical Abnormality Abnormality of limbs 4 5
C4023802 Hyperextensibility of the knee phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 3
C4082169 Metatarsus Varus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 3
C4023518 Abnormality of skin adnexa morphology phenotype Anatomical Abnormality Abnormality of the integument 2 2
C4023801 Fibular bowing disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 2
C4021598 Distal tibial bowing disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C4023330 Abnormal Descemet membrane morphology phenotype Anatomical Abnormality Abnormality of the eye 1 1
C4023930 Enlarged epiphyses of the proximal phalanges of the hand phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C4024589 Aplasia/Hypoplasia of the mandible phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 1
C4025411 Midline defect of the nose disease Anatomical Abnormality Abnormality of head or neck 1 1
C4025842 Abnormal uvea morphology phenotype Anatomical Abnormality Abnormality of the eye 1 1
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 49
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 5 5
C0266295 Congenital hypoplasia of kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the genitourinary system 5 6