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Term:
isolated growth hormone deficiency (DOID:0060870)
Annotations: Rat: (28) Mouse: (27) Human: (29) Chinchilla: (23) Bonobo: (23) Dog: (26) Squirrel: (25) Pig: (24)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
hypopituitarism +     
3-M syndrome +   
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
achondroplasia +   
acromegaly +   
acromesomelic dysplasia +   
adrenocorticotropic hormone deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Contractures Dwarfism Mental Retardation 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
Bangstad Syndrome 
Bird Headed Dwarfism Montreal Type 
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Cantu Sanchez-Corona Fragoso Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Cockayne syndrome +   
Combined Pituitary Hormone Deficiency, 5  
Congenital Hypopituitarism with Central Diabetes Insipidus 
congenital hypothyroidism +   
Culler-Jones syndrome  
De Sanctis-Cacchione Syndrome  
Desbuquois dysplasia +   
diastrophic dysplasia +   
Dincsoy Salih Patel Syndrome 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyssegmental Dysplasia with Glaucoma 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
fibrochondrogenesis +   
geroderma osteodysplasticum  
Gigantism +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
holoprosencephaly 9  
hypochondroplasia  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES  
isolated growth hormone deficiency +   
A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.
Kaplowitz Bodurtha syndrome 
Kenny-Caffey Syndrome, Type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
LESSEL-KUBISCH SYNDROME  
Loucks-Innes Syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Mollica Pavone Antener Syndrome 
mulibrey nanism  
Nievergelt Syndrome 
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
osteitis fibrosa 
otospondylomegaepiphyseal dysplasia  
panhypopituitarism +   
parastremmatic dwarfism  
Prolactin Deficiency with Obesity and Enlarged Testes 
Proportionate Dwarfism, with Hip Dislocation 
Pseudodiastrophic Dysplasia 
rapadilino syndrome  
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
RHYNS Syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Ruvalcaba Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Sheehan syndrome 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Synovial Chondromatosis, Familial, with Dwarfism 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tryptophanuria with Dwarfism 
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: Dwarfism, Pituitary ;   Growth Hormone Deficiency Dwarfism ;   Hypophysial Dwarf ;   Hyposomatotrophic Dwarfism ;   IGHD ;   Isolated GH Deficiency ;   Isolated HGH Deficiency ;   Isolated Human Growth Hormone Deficiency ;   Isolated Somatotropin Deficiency ;   Isolated Somatotropin Deficiency Disorder ;   Pituitary Dwarf ;   Pituitary Nanism ;   congenital IGHD ;   congenital isolated GH deficiency ;   congenital isolated growth hormone deficiency ;   familial isolated growth hormone deficiency ;   non-acquired isolated growth hormone deficiency
Primary IDs: MESH:D004393
Alternate IDs: OMIA:000307 ;   RDO:0002370
Xrefs: GARD:12556 ;   ICD9CM:253.3 ;   NCI:C34555 ;   OMIM:PS262400 ;   ORDO:631
Definition Sources: MESH:D004393, https://www.ncbi.nlm.nih.gov/pubmed/8288694

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.