Also known as: PHA I, autosomal recessive, PHA1B, autosomal recessive PHA 1, autosomal recessive pseudohypoaldosteronism type 1, generalised PHA1, generalised pseudohypoaldosteronism type 1, generalized PHA1, generalized pseudohypoaldosteronism type 1, pseudohypoaldosteronism type 1 autosomal recessive, pseudohypoaldosteronism type 1, recessive, pseudohypoaldosteronism, type I, autosomal recessive
Also known as: COVESDEM syndrome, Covesdem syndrome, Covesdem syndrome, formerly, RRS, Robinow syndrome, autosomal recessive, Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly, Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals, costovertebral segmentation defect with mesomelia, costovertebral segmentation defect with mesomelia, formerly, costovertebral segmentation defect-mesomelia syndrome
Also known as: autosomal recessive secondary erythrocytosis not associated with VHL gene, autosomal recessive secondary erythrocytosis, non-Chuvash type, autosomal recessive secondary polycythemia, non-Chuvash type
Also known as: SCN7, neutropenia, Severe congenital, 7, autosomal recessive, neutropenia, severe congenital, 7, autosomal recessive
Also known as: Dursun syndrome, SCN4, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, neutropenia, severe congenital 4, autosomal recessive, neutropenia, severe congenital, 4, autosomal recessive, pulmonary arterial hypertension, leukopenia, and atrial septal defect, severe congenital neutropenia type 4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Also known as: SCN6, neutropenia, severe congenital, 6, autosomal recessive
Also known as: ARSA, congenital sideroblastic anaemia, congenital sideroblastic anemia, sideroblastic anemia, autosomal recessive
Also known as: SPG59
Also known as: SPG60
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