Gene Summary

Name:
growth hormone releasing hormone receptor
Synonyms:
Ghrfr

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 2.56×10-06
increased grip strength Ghrhrtm1.1(KOMP)Vlcg HOM   Early adult 3.00×10-05
abnormal bone structure Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating aspartate transaminase level Ghrhrtm1.1(KOMP)Vlcg HET Early adult 4.89×10-07
decreased bone mineral content Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 1.31×10-28
abnormal sleep behavior Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 6.16×10-16
decreased heart weight Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 3.84×10-08
decreased mean corpuscular hemoglobin Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 2.74×10-05
increased total body fat amount Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 2.33×10-12
decreased vertical activity Ghrhrtm1.1(KOMP)Vlcg HOM   Early adult 4.48×10-09
thrombocytopenia Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 9.72×10-08
abnormal auditory brainstem response Ghrhrtm1.1(KOMP)Vlcg HOM   Early adult 6.99×10-05
decreased bone mineral density Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 1.59×10-17
decreased body length Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating alanine transaminase level Ghrhrtm1.1(KOMP)Vlcg HET Early adult 3.19×10-07
decreased lean body mass Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 7.11×10-11
increased circulating triglyceride level Ghrhrtm1.1(KOMP)Vlcg HOM Early adult 8.05×10-06
hyperactivity Ghrhrtm1.1(KOMP)Vlcg HET Early adult 3.37×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

21 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

Sleep Wake

Wake state (bmp file)

22 Images

Adult LacZ

LacZ Images Section

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

Combined SHIRPA and Dysmorphology

Images

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

16 Images

Electroretinography

Rod waveform (pdf format)

7 Images

Electroretinography

Cone waveform (pdf format)

7 Images

Human diseases caused by Ghrhr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ghrhr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Impaired growth-hormone respo... OMIM:618157

The table below shows human diseases predicted to be associated to Ghrhr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Hypogonadotropic hypogonadism, P... ORPHA:95619
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Osteoporosis, Delayed thelar... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Decreased circulating free T3, Growth delay, Short stature, Eleva... ORPHA:171706
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density, Obesity OMIM:618406
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... OMIM:619489
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Abnormal... ORPHA:314811
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... ORPHA:564003
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Hypogonadotropic hypogonadism, Osteoporosis, Hypoplasia of the ovary, Secondary gr... ORPHA:2235
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Hypercholest... OMIM:610947
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Impaired growth-hormone respo... OMIM:618157
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, A... ORPHA:166119
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... ORPHA:71526
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration, Short stature OMIM:609698
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Short stature, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced c... OMIM:262600
Non-Functioning Pituitary Adenoma
Increased serum testosterone level, Adrenal insufficiency, Abnormality of the menstrual cycle, De... ORPHA:91349
Immunodeficiency 8
Hyperactivity OMIM:615401
Panhypophysitis
Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency, Decreased male libi... ORPHA:95513
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Adenohypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Amenorrhea... ORPHA:95512
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Hypogonadotropic hypogonadism, Pitui... ORPHA:157954
Melorheostosis
Ectopic ossification in muscle tissue, Lower limb asymmetry, Failure to thrive, Hyperostosis, Art... ORPHA:2485
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test, Short stature OMIM:612781
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Growth delay, Hypothyr... OMIM:262710
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Diabetes mellitus, Obesity, Irregular menstruation, Increased cir... OMIM:144800
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Severe short stature, Pituitary dwarfism, ... OMIM:262400
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... OMIM:617395
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... ORPHA:314802
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614880
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... ORPHA:3329
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Short stature, Hypogonadotropic ... ORPHA:90695
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Severe short stature OMIM:173100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidism, Decrea... ORPHA:99832
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Short stature, Panhypopituitarism, Hypothy... OMIM:300123
Sheehan Syndrome
Hashimoto thyroiditis, Decreased female libido, Adrenocorticotropin deficient adrenal insufficien... ORPHA:91355
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
X-Linked Acrogigantism
Adrenocorticotropic hormone deficiency, Enlarged pituitary gland, Increased serum insulin-like gr... ORPHA:300373
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Th... ORPHA:3319
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Camptodactyly of finger, Anterior hypo... OMIM:208080
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Pituitary Hormone Deficiency, Combined, 3
Short stature, Pituitary dwarfism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Anteri... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, ... ORPHA:231720
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Non-Acquired Isolated Growth Hormone Deficiency
Short stature, Anterior hypopituitarism ORPHA:631
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Hypoplasia of the capital femoral e... OMIM:617719
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Generalized bone de... OMIM:600785
Pituitary Carcinoma
Hyperpituitarism, Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipid... ORPHA:300385
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Short stature, Diaphyseal sclerosis, Craniofacial... OMIM:122860
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... ORPHA:99886
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Infertility, Type II diabetes mellitus, Xerostomia, Premature adrenarche,... ORPHA:398079
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Short stature, Small for gestational age, Insulin-resistant d... OMIM:262190
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Failure to thrive, Slender build, Osteopenia, Slender long bones with ... ORPHA:50811
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex charac... ORPHA:2410
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased response to growth hormone stimulation test, Decreased circulating ... ORPHA:226307
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Primary gonadal insufficienc... ORPHA:2232
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Septooptic Dysplasia
Diabetes insipidus, Short stature, Absent septum pellucidum, Anterior pituitary hypoplasia, Decre... OMIM:182230
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Short stature, Short toe, Broad foot, Hypergonadotropic hypog... ORPHA:3085
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Short stature, Microcephaly, Cerebral calc... ORPHA:1261
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Prader-Willi Syndrome
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Decre... ORPHA:739
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Cog2-Cdg
Small pituitary gland, Secondary microcephaly, Hypoplasia of the corpus callosum, Diffuse cerebra... ORPHA:435934
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Central Precocious Puberty
Overgrowth, Hypothalamic hamartoma, Proportionate short stature, Increased circulating gonadotrop... ORPHA:759
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:95494
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Thrombocytopenia, Low-frequency hearing loss, Sensorineural heari... OMIM:124900
Panhypopituitarism, X-Linked
Pituitary dwarfism, Panhypopituitarism OMIM:312000
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... OMIM:166260
Femoral-Facial Syndrome
Micrognathia, Maternal diabetes, Talipes equinovarus, Short stature, Coxa vara, Hip dysplasia, Ab... ORPHA:1988
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... OMIM:262700
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Growth delay, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Dysplastic Cortical Hyperostosis
Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morp... ORPHA:2204
Mandibuloacral Dysplasia
Micrognathia, Short clavicles, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, ... ORPHA:2457
Pituitary Apoplexy
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Oligomenor... ORPHA:95613
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... OMIM:616784
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Leptin Receptor Deficiency
Short stature, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Diabetes mellitus, Hyp... OMIM:614963
Oliver-Mcfarlane Syndrome
Small for gestational age, Hypogonadotropic hypogonadism, Severe short stature, Cryptorchidism, D... OMIM:275400
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Micrognathia, Short clavicles, Loss of subcutaneous adipose... OMIM:608612
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Infertility, Type II diabetes mellitus, Short stature, Xerostomia, Failur... ORPHA:398069
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Growth delay,... ORPHA:54595
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Micrognathia, Short clavicles, Loss of subcutaneous adipose tiss... OMIM:248370
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Short ... OMIM:271530
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Mehmo Syndrome
Small for gestational age, Birth length less than 3rd percentile, Male hypogonadism, Obesity, Dec... OMIM:300148
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Short stature ORPHA:85274
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Decre... ORPHA:98754
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... ORPHA:93284
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Decre... ORPHA:98793
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Decre... ORPHA:177904
Osteogenesis Imperfecta, Type Xiii
Short stature, Osteoporosis, Dislocated radial head, Arachnodactyly, Joint hypermobility, Increas... OMIM:614856
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Decre... ORPHA:177901
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... ORPHA:94068
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight, Osteoporosis, Macrotia OMIM:613606
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Ectop... ORPHA:67045
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Cardiomyopathy, Sensorineural hearing impairm... OMIM:610717
Estrogen Resistance Syndrome
Glucose intolerance, Osteoporosis, Absence of pubertal development, Delayed epiphyseal ossificati... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Generalized joint laxity, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral ne... OMIM:609325
Congenital Generalized Lipodystrophy
Bone cyst, Precocious puberty in females, Insulin resistance, Failure to thrive, Large hands, Lon... ORPHA:528
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Autoimmunity, Oligomenorrhea, Pituitary hypothyroidism, Central diabetes insipidus, Impotence, Ad... ORPHA:91354
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly OMIM:615923
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Short stature, Decreased response to growth... ORPHA:254516
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Severe short stature, Ce... OMIM:225755
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Osteoporosis
Osteoporosis OMIM:166710
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Increased circulating ... OMIM:300869
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Microcephaly OMIM:309585
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Increased body wei... ORPHA:263455
Prader-Willi-Like Syndrome
Short stature, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Di... ORPHA:398073
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Oligomenorrhea, Sho... ORPHA:79444
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... OMIM:616897
Pycnodysostosis
Micrognathia, Short stature, Osteolytic defects of the distal phalanges of the hand, Absent front... OMIM:265800
Glycerol Kinase Deficiency
Hypoglycemia, Small for gestational age, Osteoporosis, Pathologic fracture, Hypertriglyceridemia,... OMIM:307030
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... ORPHA:157965
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Short stature, Small pituitary gland, Ectopic poste... OMIM:619476
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Diastrophic Dysplasia
Micrognathia, Intrauterine growth retardation, Neonatal short-limb short stature, Short finger, A... ORPHA:628
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Meningioma
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... ORPHA:2495
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... OMIM:616516
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Septo-optic dysplasia, Short stature, Abnormality of the h... ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Short stature, Microcephaly, Abnormal cerebral white matter morphology OMIM:614947
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Truncal obesity, Hypogonadism,... ORPHA:261483
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperglycemia, Large hands, Long foot, Adi... OMIM:246200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Hyperinsulinemia, Short stature ORPHA:66518
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Short stature, Abnormality of epiphysis morphology, Generalized oste... ORPHA:1306
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Oligomenorrhea, Sho... ORPHA:79443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Failure to thrive... ORPHA:293978
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Posteriorly rotated ears, Trunca... OMIM:616222
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Short stature, Aplasia/Hypoplasia of the testes, Obesity, Cryptorch... ORPHA:3055
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Low-frequency sensorineural hearing impairment, Increased circulating ferri... OMIM:613101
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Bangstad Syndrome
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Deviation o... ORPHA:1227
Mody
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:552
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Genu varum, Bowing of the legs, Osteopenia, Flare... OMIM:619073
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Secondary amenorrhea, Inappropriately normal thyroid-stimula... OMIM:301033
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Sle... OMIM:608154
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Osteoporosis, Postnatal growth retardation, Contractures of the large joints, Cort... OMIM:608278
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Fg Syndrome Type 1
Short stature, Slender build, Craniosynostosis, Inguinal hernia, Small pituitary gland, Aplasia/H... ORPHA:93932
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Culler-Jones Syndrome
Diabetes insipidus, Short stature, Hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, H... OMIM:615849
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test, Severe short stature OMIM:245590
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Short stature, Cerebral atrophy OMIM:616430
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Hypoplasia of the radius, Preaxial ... OMIM:147750
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Posteriorly ... OMIM:614727
Perrault Syndrome 4
Disproportionate tall stature, Secondary amenorrhea, Oligomenorrhea, Osteoporosis, Hypoplasia of ... OMIM:615300
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... ORPHA:93333
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Osteopetrosis, Anemia, Facial palsy, Splenomegaly, Thrombocytop... OMIM:615085
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... ORPHA:1508
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Short stature, F... ORPHA:181393
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Decreased nerv... OMIM:159550
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Monosomy 5P
Abnormality of bone mineral density, Small hand, Finger syndactyly, Recurrent fractures, Microret... ORPHA:281
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Short stature, Cerebral atrophy, Obesity, Hypoplasia of the corpus callosum, Microcephaly OMIM:616756
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Path... OMIM:259700
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Failure to thrive, Hypergonadotropic hypogonadism, Hyper... ORPHA:79237
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... ORPHA:85435
Boomerang Dysplasia
Poorly ossified vertebrae, Omphalocele, Severe short-limb dwarfism, Cryptorchidism, Abnormal bone... ORPHA:1263
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Elevated circulating parathyroid hormone level, Short... ORPHA:94089
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Talipes equinovarus, Limb undergrowt... ORPHA:1190
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Osteoporosis, Sensorineural hearing impairment, Hypertriglycer... OMIM:615381
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Short ribs, Hypopl... OMIM:607143
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Increased bone mineral density, Micrognathia, Intra... ORPHA:763
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Albers-Schönberg Osteopetrosis
Short stature, Abnormality of epiphysis morphology, Generalized osteosclerosis, Arthritis, Abnorm... ORPHA:53
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hydranencephaly
Abnormal corpus striatum morphology, Atrophic pituitary gland, Intrauterine growth retardation, T... ORPHA:2177
Narcolepsy 7
Narcolepsy, Obesity, Type II diabetes mellitus OMIM:614250
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level, Osteopenia OMIM:125700
Leptin Deficiency Or Dysfunction
Hypogonadism, Primary amenorrhea, Decreased serum leptin, Obesity, Decreased testicular size OMIM:614962
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Failure to thrive, Decreased response to growth hormone stimulation test, Agenesis... OMIM:615286
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... ORPHA:2183
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Aplasia Cutis Congenita
Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly ORPHA:1114
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Polydactyly, Short stature, Small for gestational age, Lower limb asymmetry, Neonat... ORPHA:231140
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Osteopenia OMIM:615066
Perlman Syndrome
Micrognathia, Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Microphthalmia, Syndromic 3
Short stature, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas... OMIM:206900
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Cardiomyopathy, Hearing impairment, Thrombocytopenia ORPHA:67048
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Intrauterine growth retardation, Short stature, Failure to thrive, Abs... ORPHA:163976
Prader-Willi Syndrome
Adrenal insufficiency, Short stature, Acromicria, Syndactyly, Type II diabetes mellitus, Hypogona... OMIM:176270
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Osteoporosis, Lipodystrophy, Osteopenia, Flexion contractu... OMIM:613327
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Galloway-Mowat Syndrome 6
Short stature, Decreased body weight, Hypothyroidism, Decreased response to growth hormone stimul... OMIM:618347
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Adrenal hypoplasia, Postnatal growth retardation, Cryptorchidism... OMIM:614732
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Beta-Thalassemia
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Abnormal hemoglobin, Anemia, Spleno... ORPHA:848
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Thanatophoric Dysplasia Type 1
Femoral bowing, Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the ... ORPHA:1860
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Short stature, Osteoporosis, Hypogonadism, Enamel... OMIM:612462
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... ORPHA:85184
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Obesity, Delayed puberty ORPHA:141333
Pseudopseudohypoparathyroidism
Short stature, Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Malaria
Gait imbalance, Anemia, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive pro... ORPHA:673
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Short stature OMIM:616224
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... ORPHA:163649
Poems Syndrome
Sclerosis of foot bone, Weight loss, Abnormality of the endocrine system, Lipodystrophy, Sclerosi... ORPHA:2905
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Micrognathia, Hypoglycemia, Intrauterine growth retardati... ORPHA:73272
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Generaliz... ORPHA:89936
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Megaloblastic anemia, Sensorineural hearing impairment,... ORPHA:49827
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Ovarian Dysgenesis 1
Osteoporosis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity, Microcephaly OMIM:300471
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Anti-thyroid peroxidase antibody positivity, Decreased thyroid-stimulating hormone level, Decreas... ORPHA:95715
Dysosteosclerosis
Short stature, Abnormal dental enamel morphology, Abnormality of the metaphysis, Coarse metaphyse... ORPHA:1782
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Smith-Magenis syndrome
Hyperactivity DECIPHER:8