Gene Summary

Name:
growth hormone receptor
Synonyms:
GHBP,  GHR/BP

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.

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 50% (1 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.36% (2 of 554)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)

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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Forepaw

13 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Adult LacZ

LacZ Images Section

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Ghr 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 predicted to be associated to Ghr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postna... OMIM:615961
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... OMIM:262700
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged n... OMIM:262400
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Intrauterine growth retardation, Hyperglycemia OMIM:601410
Short Stature Due To Partial Ghr Deficiency
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... ORPHA:314802
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Failure to thrive, Type II diabetes mellitus, Decreased... ORPHA:163976
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Increased circulating gonadotropin level, Decreased serum testosterone concent... OMIM:300869
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Growth Hormone Insensitivity, Partial
Decreased serum insulin-like growth factor 1, Short stature OMIM:604271
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Hepatomegal... ORPHA:465508
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... ORPHA:552
X-Linked Intellectual Disability, Cilliers Type
Increased circulating gonadotropin level, Failure to thrive, Clinodactyly of the 5th finger, Decr... ORPHA:163971
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... ORPHA:99330
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Multiple joint contractures, Hypergonadotropic hypogonadism, Osteope... ORPHA:2959
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... ORPHA:398069
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Prader-Willi Syndrome
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Primary amenorrhea, Clito... ORPHA:739
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased fem... ORPHA:432
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, S... ORPHA:398079
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia OMIM:615999
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia, Intrauterine growth retardation, Severe short stature OMIM:223500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Short stature ORPHA:366
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... OMIM:308700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:226307
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Hypog... ORPHA:181393
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Hypothyroidism OMIM:268040
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Uni... OMIM:308750
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Postterm pregnancy, Prima... ORPHA:98754
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Postterm pregnancy, Prima... ORPHA:98793
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Postterm pregnancy, Prima... ORPHA:177904
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Aarskog-Scott Syndrome
Testicular atrophy, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concent... OMIM:305400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Postterm pregnancy, Prima... ORPHA:177901
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Micropenis, Tapered finger, Hypogonadism, Obesity, Cryptorchi... ORPHA:85274
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Short stature, Small hand, Truncal obesity, Short foot, Decreased testicular s... ORPHA:261483
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Micropenis, Brachydactyly, Syndactyly, Polydac... OMIM:615983
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment, Polydactyly, Hypogonadism OMIM:615989
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... OMIM:614962
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Premature coronary artery atherosclerosis, Azoospermia, I... OMIM:615703
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Osteopenia, Postterm pregnancy, Prima... ORPHA:398073
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Ane Syndrome
Multiple joint contractures, Ulnar deviation of the hand, Decreased serum testosterone concentrat... ORPHA:157954
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... OMIM:604367
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus OMIM:606176
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Contract... ORPHA:2232
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Disproportionate tall stature, De... ORPHA:95699
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogona... ORPHA:3085
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Elevated circulating aspartate ... OMIM:619048
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Short stature, Diabetic ketoaci... OMIM:262190
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Acr... ORPHA:280365
Bardet-Biedl Syndrome 10
Cognitive impairment, Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism, Obesity OMIM:615987
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... OMIM:613027
Slc35A2-Cdg
Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contractu... ORPHA:356961
Bardet-Biedl Syndrome 11
Obesity, Polydactyly, Hypogonadism OMIM:615988
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... OMIM:176270
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadotropic cell aden... ORPHA:91348
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Temple Syndrome
Flexion contracture, Short stature, Small for gestational age, Maturity-onset diabetes of the you... OMIM:616222
Congenital Generalized Lipodystrophy
Bone cyst, Hyperinsulinemia, Hepatomegaly, Long foot, Lipodystrophy, Clitoral hypertrophy, Polycy... ORPHA:528
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... OMIM:232400
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Panhypophysitis
Polydipsia, Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased c... ORPHA:95513
Legg-Calvé-Perthes Disease
Cartilage destruction, Short stature ORPHA:2380
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaire... ORPHA:90673
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Hypothermia, Goiter, Hypothyroidism ORPHA:226292
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Late-Onset Familial Hypoaldosteronism
Fever, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Increased circul... ORPHA:556037
Wolfram-Like Syndrome
Glucose intolerance, Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes m... ORPHA:411590
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Woodhouse-Sakati Syndrome
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentrat... ORPHA:3464
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulatin... ORPHA:95717
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Schaaf-Yang Syndrome
Flexion contracture, Short stature, Micropenis, Small hand, Rocker bottom foot, Brachydactyly, Ta... OMIM:615547
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Short stature, Small hand, Hypogonadotropic hypogonadism, Abnormal u... ORPHA:177910
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Loss ... ORPHA:435660
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Adenohypophysitis
Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... ORPHA:95512
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Eunuchoid habitus, Tall stature, Hypergonadotrop... ORPHA:91
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... OMIM:615160
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern... ORPHA:1772
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... ORPHA:91349
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Genu valgum, Decreased testicular size, Cr... OMIM:614880
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Pes cavus, Decreased serum testosterone concentration, Premature ovarian ... ORPHA:101006
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia, Central hypothyro... OMIM:301033
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... ORPHA:79084
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Bardet-Biedl Syndrome 16
External genital hypoplasia, Cognitive impairment, Renal cyst, Renal insufficiency, Hypogonadism,... OMIM:615993
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... ORPHA:26792
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Short stature, Hypergonadotropic hypogonadism, Reduced bone mineral density,... ORPHA:2410
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... OMIM:212140
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Failure to thrive, Clinodactyly of the 5th finger, Neonat... ORPHA:73272
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:226316
Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue d... ORPHA:189439
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Bir... OMIM:300148
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammo... ORPHA:6
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Calf muscle hypertrophy, Loss of gluteal subcutaneous... ORPHA:435651
Ollier Disease
Joint stiffness, Lymphangioma, Precocious puberty, Anemia, Abnormal cartilage morphology, Osteoly... ORPHA:296
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Long penis, Pancre... OMIM:246200
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short stature, ... ORPHA:1988
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... ORPHA:79444
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Lipodys... ORPHA:79085
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Neuroendoc... ORPHA:913
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... ORPHA:94086
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... OMIM:251880
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... ORPHA:231140
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Cry... OMIM:614736
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulat... ORPHA:226313
Hydatidiform Mole
Miscarriage, Hyperthyroidism, Preeclampsia, Enlarged uterus, Menometrorrhagia, Anemia ORPHA:99927
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Micrognat... ORPHA:254531
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... ORPHA:91355
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Hepatomegaly, Short stature, Splen... OMIM:201100
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia, Hypogonadism, Growth delay ORPHA:163693
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Short stature, Small for gestational age, Maturity-onset diabetes of the youn... ORPHA:96184
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614495
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Osteopenia, Reduced bone mineral density, Primary amenorrhea, Arachn... ORPHA:243
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Long foot, Lip... OMIM:269700
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Polyphagia, Postaxial foot polydactyly, Hypogonadism, Obe... OMIM:617119
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Glycosuria, Finger clinodactyly, ... ORPHA:79474
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly OMIM:614741
Mccune-Albright Syndrome
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Chole... ORPHA:562
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Nonimmune hydrops fetalis,... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Long foot, Lip... OMIM:608594
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Hyperalaninemia, Small for gestational age OMIM:614702
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Intrauterine growth retardatio... ORPHA:79324
Pseudohypoparathyroidism, Type Ia
Short toe, Short stature, Elevated circulating parathyroid hormone level, Cognitive impairment, B... OMIM:103580
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Dysmenorrhea, Bifid scrotum, Small for gestational ... ORPHA:397590
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short ... ORPHA:2235
Wilson-Turner Syndrome
Short stature, Small hand, Hypogonadotropic hypogonadism, Micrognathia, Pes cavus, Tapered finger... ORPHA:3459
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Intrauterine growth retardation, Single umbilical artery, ... OMIM:616897
Hyperostosis Frontalis Interna
Irregular menstruation, Hyperostosis frontalis interna, Increased circulating prolactin concentra... OMIM:144800
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614496
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Tall... ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes cavus, Tapered finger, Pes planus, Short foot, Obesity, Cryptorchidism OMIM:309585
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Atypical scarring of skin, Hypo... ORPHA:791
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99413
Mosaic Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99228
Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:99226
Turner Syndrome
Female infertility, Hyperinsulinemia, Short sternum, Osteopenia, Primary amenorrhea, Irregular pr... ORPHA:881
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short stature, Mitral valve prolapse, Abnormal metacarpal morphology... ORPHA:2233
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Cognitive impairment, Brachydactyl... OMIM:612462
Perrault Syndrome 1
Talipes equinovarus, Short stature, Pes cavus, Primary amenorrhea, Osteoporosis, Gonadal dysgenes... OMIM:233400
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... ORPHA:91347
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridem... OMIM:307030
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Hyperalaninemia OMIM:266150
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, E... OMIM:617950
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Microgna... ORPHA:3409
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... ORPHA:273
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... OMIM:606407
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Short metacarpal, 11 pairs of ribs, Micromeli... OMIM:215140
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Premature fusion of the radial epiphyseal plates, Ambiguous... ORPHA:90794
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Disproportionate tall statu... OMIM:615300
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... ORPHA:457059
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level, M... OMIM:202150
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia,... ORPHA:785
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemi... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Hypergonadotropic hypogonadism, Primary amenorrhea, Tachycardia, Memory impair... OMIM:619737
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Oocyte Maturation Defect 10
Formation of multiple pronuclei during fertilization, Female infertility, Miscarriage, Repeated i... OMIM:619176
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... OMIM:614963
Squalene Synthase Deficiency
Bicuspid aortic valve, 2-3 toe syndactyly, Hypospadias, Micrognathia, Slender long bone, Increase... OMIM:618156
Bardet-Biedl Syndrome 4
External genital hypoplasia, Brachydactyly, Syndactyly, Polydactyly, Renal cyst, Hypogonadism, Ob... OMIM:615982
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism ORPHA:2022
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Hepatomegaly, External genital hypoplasia, Hepatoblast... ORPHA:96334
Borjeson-Forssman-Lehmann Syndrome
Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Short stature, ... OMIM:301900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Small for gestational age ORPHA:231147
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hyperur... OMIM:203800
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Cryptorchidism, Int... OMIM:618958
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature ORPHA:364
Fg Syndrome Type 1
Craniosynostosis, Limited elbow extension and supination, Umbilical hernia, Clinodactyly of the 2... ORPHA:93932
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Intrauterine growth retardation, Abnormal circulating acetylcarnitine concentr... ORPHA:71212
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Growth delay, Renal tubular acidosis, Hepatomegaly, Hepatic failure, ... ORPHA:2088
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Osteoporosis, Gonadal dysgenesis OMIM:233300
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Cirrhosis, Hepatic failure, Elevat... OMIM:617049
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Cirrhosis, Hepat... OMIM:602579
Alg6-Cdg
Failure to thrive, Jaundice, Decreased LDL cholesterol concentration, Hypoalbuminemia, Puberty an... ORPHA:79320
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Immunodeficiency 31C
Hypothyroidism, Delayed puberty, Diabetes mellitus OMIM:614162
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Int... ORPHA:1505
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase, Methylmalonic acidemia, Dicarboxy... ORPHA:289504
Mehmo Syndrome
Talipes equinovarus, Hypoplasia of penis, External genital hypoplasia, Micropenis, Tapered finger... ORPHA:85282
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hyperlipidemia, Abnormal T-... OMIM:241080
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Neuroendocrine neoplasm, Abnormal libido, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, External genital hypoplasia, Postaxial hand polydact... OMIM:615981
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure OMIM:619011
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, O... OMIM:610628
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Ventricular septal defec... OMIM:222470
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Large for gestational ag... OMIM:616026
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... ORPHA:95613
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
19P13.12 Microdeletion Syndrome
Craniosynostosis, Ventricular septal defect, Sandal gap, Intrauterine growth retardation, Precoci... ORPHA:254346
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Acute hepatic f... OMIM:256810
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Bardet-Biedl Syndrome 19
External genital hypoplasia, Polydactyly, Renal insufficiency, Hypogonadism, Obesity OMIM:615996
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Hypocholesterol... OMIM:610539
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, ... OMIM:618120
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility, Hydatidiform mole OMIM:618432
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly, Hypogonadism, Obesity OMIM:615984
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Ambiguous genitalia, female, External genital hypoplasia, Abn... OMIM:249000
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Micropenis, Small for gestational age, Hypo... OMIM:607143
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Growth delay,... OMIM:214700
Short Stature, Brussels Type
Delayed epiphyseal ossification, Short stature, Calcification of cartilage, Horseshoe kidney, Gro... ORPHA:2867
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Cornelia De Lange Syndrome 5
Clinodactyly of the 5th finger, Short stature, Micropenis, Micrognathia, Small hand, Limited elbo... OMIM:300882
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Hyper... ORPHA:1667
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility, Dementia OMIM:212840
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Tall sta... ORPHA:99429
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Mi... ORPHA:2183
48,Xxxy Syndrome
Tall stature, Down-sloping shoulders, Radioulnar synostosis, Abnormal epiphysis morphology, Hypog... ORPHA:96263
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Upper limb ... ORPHA:439822
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Recurrent fever, Fever, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Decreased liver function ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth retardation... OMIM:618838
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short stature, Primary amenorrhea, Anti-GAD65 antibody, Osteoporos... OMIM:616033
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Hernia of the abdominal wall, Aplasia/Hypoplasia of the teste... ORPHA:3055
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Osteopenia, Increased circulating prolactin concentration, I... ORPHA:3455
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Prenatal maternal abnormality, Isosexual precocious ... ORPHA:759
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency,... ORPHA:54595
Oocyte Maturation Defect 8
Female infertility, Zygotic cleavage failure OMIM:619009
Galactosemia
Failure to thrive, Hepatomegaly, Reduced bone mineral density, Cognitive impairment, Cirrhosis, I... ORPHA:352
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... ORPHA:199296
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated cir... OMIM:616185
Oocyte Maturation Defect 12
Female infertility, Abnormal preimplantation embryonic development OMIM:619697
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... ORPHA:79096
Kallmann Syndrome
Recurrent fractures, Dyspareunia, Hypoplasia of penis, Micropenis, Reduced bone mineral density, ... ORPHA:478
Mosaic Trisomy 16
Atrial septal defect, Single umbilical artery, Small for gestational age, Hypospadias, Premature ... ORPHA:1708
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Micromelia, Ventricular septal defect, Ambiguous genitalia, Hammertoe, Hip subluxat... OMIM:270400
Non-Acquired Panhypopituitarism
Osteopenia, Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary dwarfism, Absence ... ORPHA:90695
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Primary Erythromelalgia
Hypothermia ORPHA:90026
Biemond Syndrome Type 2
Short stature, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty,... ORPHA:141333
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Inguinal hernia, Elevated circulating luteinizing hormone level,... OMIM:300068
Robinow Syndrome
Tricuspid atresia, External genital hypoplasia, Clitoral hypoplasia, Ventricular septal defect, B... ORPHA:97360
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Small hand, Micrognathia, Acromicria, Clinodact... ORPHA:254525
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... OMIM:300554
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Polydipsia, Long penis, Ventricular septal defect, Clitoral ... ORPHA:769
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... ORPHA:79083
Galloway-Mowat Syndrome 6
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Hypo... OMIM:618347
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine ORPHA:79159
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Micropenis, Short stature, Hypospadias, Pes cavus, Small hand, Brachydactyly, ... OMIM:300354
Pediatric-Onset Graves Disease
Polydipsia, Graves disease, Hepatomegaly, Increased fetal movement, Sinus tachycardia, Craniosyno... ORPHA:525731
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... ORPHA:247768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Polycystic ovaries, C... ORPHA:264580
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Carpenter Syndrome 1
External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular ... OMIM:201000
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... ORPHA:90674
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Flexion contracture, Inguinal hernia, Shor... ORPHA:440713
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Pituitary Stalk Interruption Syndrome