All terms in DOID

Label Id Description
autosomal recessive nonsyndromic deafness 99 DOID_0111634 [An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.]
autosomal dominant limb-girdle muscular dystrophy type 1H DOID_0110303 [An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23.]
obsolete autosomal dominant limb-girdle muscular dystrophy type 1A DOID_0110300
familial erythrocytosis 7 DOID_0111631 [A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.]
cloacogenic carcinoma DOID_7173
familial erythrocytosis 6 DOID_0111632 [A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.]
obsolete autosomal dominant limb-girdle muscular dystrophy type 1B DOID_0110301
obsolete recurrent non-cutaneous melanoma DOID_7170
obsolete recurrent cutaneous melanoma DOID_7171
familial erythrocytosis 8 DOID_0111630 [A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.]
subacute thyroiditis DOID_7165
irregular astigmatism DOID_13919
obsolete dystocia DOID_8494
somatization disorder DOID_13918 [A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin.]
obsolete mediastinum mature teratoma DOID_7164
obsolete prolonged labor DOID_8495
lung occult large cell carcinoma DOID_7169
hypertrophic cardiomyopathy 2 DOID_0110308 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).]
autosomal recessive nonsyndromic deafness 109 DOID_0111639 [An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.]
hypertrophic cardiomyopathy 3 DOID_0110309 [A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.]