Transcription factor deficiencies

sex differentiation condition involving hormonal resistance due to androgen receptor dysfunction in a karyotypically male person

genetic condition involving hearing loss and depigmentation

osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull

rare disease

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea

Human disease

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting

rare genetic disorder

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

autosomal dominant form called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders

Human disease

characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur

Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism (presenting hyperkalemia). Two major types of primary pseudohypoaldosteronism are recognized and these have major differences in etiology and presentation.

Human disease

hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11

autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment

acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face

autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs

Human disease

genetic variation in which the body does not respond to estrogen

human disease

medical condition

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Human disease

intersex variation where one has no response to androgens and is born with a vulva and clitoris

autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts