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Entry	Name	Description	Category	Gene
H00234	Pelger-Huet anomaly	Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.	Hematologic disease	LBR [HSA:3930] [KO:K19532]
H00244	Pseudohypoparathyroidism	... hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type ...	Endocrine and metabolic disease	(PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632] (PHP1B) STX16 [HSA:8675] [KO:K08489] (PHP1B) GNAS-AS1 [HSA:149775]
H00447	HEM skeletal dysplasia Greenberg dysplasia	... by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is inherited as an autosomal recessive trait. Homozygous mutation in LBR is the cause of HEM/Greenberg skeletal dysplasia.	Congenital malformation	(GRBGD) LBR [HSA:3930] [KO:K19532]
H00501	Fibrous dysplasia, polyostotic McCune-Albright syndrome Albright hereditary osteodystrophy	Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of ...	Congenital malformation	GNAS [HSA:2778] [KO:K04632]
H00561	Brachydactyly-mental retardation syndrome Chromosome 2q37 deletion syndrome	Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism ...	Chromosomal abnormality	HDAC4 [HSA:9759] [KO:K11406]
H01133	Reynolds syndrome	Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies ...	Immune system disease	LBR [HSA:3930] [KO:K19532]
H01618	Pituitary gigantism	... occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature ...	Endocrine and metabolic disease	GPR101 (duplication) [HSA:83550] [KO:K08423]
H02732	Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly Regressive spondylometaphyseal dysplasia	... characterized by both short stature and other skeletal anomalies with or without abnormal blood granulocyte nuclear shape. SKPHA has been linked to homozygous mutations or compound heterozygous mutations in LBR.	Congenital malformation	LBR [HSA:3930] [KO:K19532]

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