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Ontology Browser

Term:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (DOID:9002620)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
microcephaly +     
3-M syndrome +   
3p deletion syndrome  
Aarskog syndrome +   
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
achondroplasia +   
acromesomelic dysplasia +   
adrenal gland disease +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Contractures Dwarfism Mental Retardation 
alopecia, neurologic defects, and endocrinopathy syndrome  
AMED syndrome  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amish Lethal Microcephaly  
anauxetic dysplasia +   
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
Asparagine Synthetase Deficiency  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Atelosteogenesis Type 3  
autoimmune disease of endocrine system +   
autosomal dominant microcephaly +   
Baetz-Greenwalt Syndrome 
Bangstad Syndrome 
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bird Headed Dwarfism Montreal Type 
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Brachydactylous Dwarfism Mseleni Type 
Brachydactyly, Type A2, With Microcephaly 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Branchial Arch Syndrome X-Linked 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cockayne syndrome +   
Cohen syndrome  
congenital hypothyroidism +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
De Sanctis-Cacchione syndrome  
Desbuquois dysplasia +   
diabetes mellitus +   
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
diastrophic dysplasia +   
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
diphthamide deficiency syndrome +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Dubowitz syndrome  
Dwarfism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism with Tall Vertebrae 
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  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Endocrine Bone Diseases +   
endocrine gland cancer +   
Endocrine Gland Neoplasms +   
Endocrine Tuberculosis 
endocrine-cerebro-osteodysplasia syndrome  
Estrogen Resistance  
Familial Dwarfism with Muscle Spasms 
Familial Synovial Chondromatosis with Dwarfism 
Faundes-Banka Syndrome  
Feingold syndrome +   
Female Athlete Triad Syndrome 
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fibrochondrogenesis +   
Filippi syndrome  
Forsythe-Wakeling Syndrome 
Galloway-Mowat syndrome +   
GARG-MISHRA PROGEROID SYNDROME  
geroderma osteodysplasticum  
GOMBO Syndrome 
gonadal disease +   
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Halal Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypospadias-Mental Retardation Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1  
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
isolated growth hormone deficiency +   
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kaufman oculocerebrofacial syndrome  
Kenny-Caffey syndrome type 2  
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 
Kniest dysplasia  
Lambotte Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Lessel-Kubisch Syndrome  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
linear skin defects with multiple congenital anomalies 2  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
liver disease +   
Lowry Wood Syndrome  
MacDermot Winter Syndrome 
Macrosomia Adiposa Congenita 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
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 Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern  
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mollica Pavone Antener Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
mulibrey nanism  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Nabais Sa-de Vries Syndrome, Type 1  
Neu-Laxova syndrome 1  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
Nievergelt Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
pancreas disease +   
parastremmatic dwarfism  
parathyroid gland disease +   
Partington Anderson Syndrome 
PHGDH deficiency  
pituitary gland disease +   
Polyendocrine-Polyneuropathy Syndrome  
porencephaly +   
primary microcephaly +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Proportionate Dwarfism with Hip Dislocation 
proprotein convertase 1/3 deficiency  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudodiastrophic Dysplasia 
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
rapadilino syndrome  
Retinohepatoendocrinologic Syndrome 
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Ruvalcaba Syndrome 
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
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, DAUBER-ARGENTE TYPE  
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, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
thymus gland disease +   
thyroid gland disease +   
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Watson syndrome  
Webb-Dattani Syndrome  
Weill-Marchesani syndrome +   
Wiedemann-Steiner syndrome  
Winship Viljoen Leary Syndrome 
Zaki syndrome  
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: SSMED ;   XRCC4-RELATED CONDITION
Primary IDs: OMIM:616541 ;   RDO:9001550

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