Gene Summary

Name:
nuclear receptor coactivator 1
Synonyms:
SRC-a/NCoA-1,  SRC1,  KAT13A,  steroid receptor coactivator-1,  SRC-1,  bHLHe74

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 fasting circulating glucose level Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 7.90×10-05
hyperactivity Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 6.99×10-07
hydrocephaly Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased bone mineral content Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.88×10-10
increased lean body mass Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.50×10-05
increased circulating alkaline phosphatase level Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 1.61×10-07
decreased total body fat amount Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 2.95×10-05
abnormal brain morphology Ncoa1tm1.1(KOMP)Vlcg HOM Early adult 0.00

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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
blood 0.0%
bone marrow 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
chest bone Unavailable
colon 7.5% (9 of 120)
diaphragm 0.0%
duodenum 1.69% (2 of 118)
epididymis 13.49% (17 of 126)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.36% (2 of 557)
hindlimb 0.0%
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
ileum 10.92% (13 of 119)
jejunum 5.13% (6 of 117)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 563)
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
stomach pyloric region 0.0%
striatum 0.54% (3 of 556)
sublingual gland 0.0%
submandibular gland 0.83% (1 of 121)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
tongue 4.2% (5 of 119)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.26% (12 of 368)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

127 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ncoa1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncoa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis, Hypogonadism OMIM:615270
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis OMIM:615269
Premature Ovarian Failure 2B
Primary amenorrhea, Delayed puberty, Osteoporosis, Premature ovarian insufficiency, Tall stature OMIM:300604
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Obesity, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:264010
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Cryptorchidism, Obesity, Osteoporo... OMIM:610628
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Cryptorchidism, Decreased serum testosterone concentration, Decreased t... ORPHA:163976
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Primary amenorrhea, Joint laxity, Osteoporosis, Delayed puberty, Hyperinsuline... OMIM:616033
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Cryptorchidism, Decreased serum testosterone concentration, Decreased t... ORPHA:163971
Mu-Heavy Chain Disease
Osteoporosis, Bence Jones Proteinuria, Osteolysis, Nephropathy, Weight loss ORPHA:100024
Hyaline Fibromatosis Syndrome
Osteolysis, Osteopenia, Osteoporosis, Progressive flexion contractures OMIM:228600
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Osteopenia, Amenorrhea, Menorrhagia, ... ORPHA:397685
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Recurrent fractures, Delayed puberty, Osteoporosis, Secondary growth hormone ... ORPHA:2410
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis OMIM:615271
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testost... ORPHA:66628
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Cryptorchidism, Adrenocortical ... ORPHA:408
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia, Tall stature OMIM:618406
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Gout OMIM:610947
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... ORPHA:432
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testost... ORPHA:179494
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615988
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Cryptorchidism, Decreased serum te... OMIM:614841
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Hydroxyprolinuria, Pathologic fracture OMIM:174810
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Osteoporosis,... ORPHA:251510
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility ORPHA:3294
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Increased circulating T4 level, Decreased circulating free T3, Abnormal circulating insu... ORPHA:171706
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615989
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated ... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Osteoporosis, Abdominal obesi... OMIM:615954
Immunodeficiency 12
Osteoporosis OMIM:615468
Idiopathic Hypercalciuria
Renal calcium wasting, Osteopenia, Hypercalciuria, Osteoporosis, Calcium oxalate nephrolithiasis ORPHA:2197
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Abnormality of the kidney, Renal insufficiency, Hypogonadism OMIM:615987
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Forsythe-Wakeling Syndrome
Decreased body weight, Osteoporosis, Nephrotic syndrome OMIM:613606
Hyperostosis Frontalis Interna
Irregular menstruation, Obesity, Increased circulating prolactin concentration, Diabetes mellitus... OMIM:144800
Osteoporosis
Osteoporosis OMIM:166710
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones OMIM:277950
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Nephrocalcinosis, Osteopenia, Hypercalcemia, Hypercalciuria, Infantile ... ORPHA:99879
Hemochromatosis Type 2
Increased circulating ferritin concentration, Osteoporosis, Elevated transferrin saturation, Abno... ORPHA:79230
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures OMIM:256720
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Micropenis, Cryptorch... OMIM:618841
Ramon Syndrome
Failure to thrive, Osteolysis, Diabetes mellitus ORPHA:3019
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Micropenis, Azoospermia, Decreased circ... OMIM:228300
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Stiff interphalangeal joints, Joint... ORPHA:465508
Perrault Syndrome 4
Primary amenorrhea, Obesity, Osteoporosis, Decreased serum estradiol, Bicornuate uterus, Secondar... OMIM:615300
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, External genital hypoplasia, Diabetes mellitus, Hypospadias OMIM:605231
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased serum testoster... OMIM:610489
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Syndromic X-Linked Intellectual Disability 7
Micropenis, Cryptorchidism, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Spinocerebellar Ataxia 32
Cerebellar atrophy, Infertility, Cognitive impairment, Azoospermia, Ataxia, Testicular atrophy OMIM:613909
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Carpal osteolysis, Metacarpal osteolysis, Osteolysis, Cachexia, Nephropathy, Camptod... ORPHA:2774
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Nephrolithiasis, Hypercalciuria, Increased susceptibility to fractures, Osteoporosis,... OMIM:612286
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadism OMIM:615267
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Micropenis, Obesity, Decreased serum leptin, Hypogonadism, Decreased testicul... OMIM:614962
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Osteopenia, Primary amenorrhea, Hyperinsulinemia, Ost... ORPHA:785
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Azoospermia, Testicular atrophy, Progressive cerebellar... ORPHA:276183
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Nephrolithiasis, Increased susceptibility to fractures, Osteoporosis, Hyperphosphatur... OMIM:612287
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis OMIM:204730
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Obesity, Abnormality of the kidney, External genital hypoplasia, Rena... OMIM:615993
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Hypogonadism, External genital hypoplasia OMIM:615983
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Cryptorchidism, Osteoporosis, Increased urinary... OMIM:307030
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic ... OMIM:612462
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Abnormal circulating insulin level, Truncal obesity ORPHA:293964
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Osteoporosis, Decreased testicular size OMIM:614838
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Nephrolithiasis, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone c... ORPHA:93160
Juvenile Hyaline Fibromatosis
Joint stiffness, Osteolysis, Progressive flexion contractures ORPHA:2028
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Hypothyroidism, Osteoporosis, Male hypogonadism OMIM:618625
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Proteinuria, Abnormality of the kidney, Osteoporosis, Failure to thri... ORPHA:369
Ovarian Dysgenesis 8
Hypoplastic labia majora, Primary amenorrhea, Elevated circulating luteinizing hormone level, Ost... OMIM:618187
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Contractures of the large joints, Osteoporosis OMIM:608278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Osteoporosis, Decreased serum estradiol, Impoten... ORPHA:2232
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis, Primary hypercortisolism, Truncal obesity, Paradoxical increased cortis... OMIM:610475
Gorham-Stout Disease
Cortical irregularity, Osteopenia, Abnormal bone ossification, Osteomyelitis, Osteolysis, Patchy ... ORPHA:73
Ollier Disease
Precocious puberty, Joint stiffness, Osteolysis ORPHA:296
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Osteoarthritis, ... ORPHA:77296
Dermatoosteolysis, Kirghizian Type
Flexion contracture, Osteolysis, Joint contracture of the hand OMIM:221810
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Osteopenia, Multiple joint contractures, Small for gestational age, Del... ORPHA:2959
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic ... OMIM:103580
Aromatase Deficiency
Osteopenia, Hyperlipidemia, Primary amenorrhea, Cryptorchidism, Obesity, Osteoporosis, Hypergonad... ORPHA:91
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration, Abnormality of the u... ORPHA:101006
Maffucci Syndrome
Recurrent fractures, Neoplasm of the adrenal cortex, Parathyroid adenoma, Ovarian neoplasm, Osteo... ORPHA:163634
Bardet-Biedl Syndrome 19
External genital hypoplasia, Obesity, Hypogonadism, Renal insufficiency OMIM:615996
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ventriculomegaly, Hydrocephalus OMIM:618709
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Polycystic ovaries, Carpal osteolysis, Osteolysis involving... ORPHA:371428
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Osteoporosis OMIM:618234
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Adrenocorticotropic hormone deficiency, Ovarian cy... ORPHA:91348
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Incre... OMIM:615830
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Osteopenia, Hyperlipidemia, Hyperinsulinemia, Delayed p... ORPHA:3464
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Abnormal response to ACTH stimulation... ORPHA:157954
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Recurrent fractures, Cryptorchidism, Obesity, Osteoporosis, Hypoplasia... ORPHA:3409
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hypertrigl... ORPHA:71529
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Joint laxity, Failure to thrive, Osteoporosis OMIM:614727
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity ORPHA:436141
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Osteosarcoma
Osteolysis, Weight loss, Pathologic fracture ORPHA:668
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Macronodular adrenal hyperplasia, Osteoporosis, Primary hypercortisolism, Truncal obe... OMIM:219080
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Hydrocephalus OMIM:129850
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Obesity, Oligospermia, Hypertriglyceridemia, Incr... OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Pseudopseudohypoparathyroidism
Obesity, Osteoporosis, Pseudohypoparathyroidism OMIM:612463
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level, Osteopenia OMIM:125700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperlipidemia, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnorm... ORPHA:189427
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Premature ovarian insufficiency, Hypogonadism... ORPHA:261483
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatremia, Decreased female libido,... ORPHA:95512
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Osteoporosis ORPHA:2958
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Orbital craniosynostosis, Hydrocephalus ORPHA:1538
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Osteolysis ORPHA:66627
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased susceptibility to fractures, Elevated circulating creatine kinase concentration, Urinar... ORPHA:52430
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Osteomalacia, Incre... ORPHA:157215
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Obesity, Abnormality of the kidney, External genital hypoplasia, Hypo... OMIM:615982
Panhypophysitis
Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto thyroiditis, Decreased seru... ORPHA:95513
Immunodeficiency 8
Hyperactivity OMIM:615401
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Ovarian cyst, Osteomalacia, Diabetes mellitus, Rickets, Increased... ORPHA:249
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Cryptorchidism, Overweight,... OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Joint laxity, Decreased serum tes... OMIM:305400
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Prieto Syndrome
Cryptorchidism, Osteoporosis OMIM:309610
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Azoosper... OMIM:235200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Craniofacial osteosclerosis, Elevated circulating C-reactive protein concentration, ... ORPHA:324964
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Desmoid Tumor
Limitation of joint mobility, Hydronephrosis, Osteolysis, Abnormality of the upper urinary tract ORPHA:873
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Bone cyst, Osteolysis, Limitation of joint mobility, Ne... ORPHA:2591
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hypoplasia of penis ORPHA:3055
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... ORPHA:398079
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hyperinsulinemia, Obesity, Central adrenal ins... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Pituitary hypothyroidism, Hyperinsulinemia, Obesity, Central adrenal ins... ORPHA:71526
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Hyperlipidemia, Nephrolithiasis, Pigmented micronodular adrenocortical di... ORPHA:189439
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin l... ORPHA:90795
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Polyuria, Osteoporosis, Failure to thrive, Diabet... OMIM:560000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Mccune-Albright Syndrome
Irregular menstruation, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Abnormalit... ORPHA:562
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Immunodeficiency 61
Obesity, Arthritis OMIM:300310
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Osteoporosis, Knee flexion contracture, Failure to thrive, Arthrogrypo... OMIM:214150
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Ventriculomegaly, Elevated circulating creatine kinase concentration, Dandy-... OMIM:613154
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypercholesterolemia, Hypoplasia of penis, Truncal obesity, Failure to thrive... ORPHA:181393
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration OMIM:619256
Warburg Micro Syndrome 1
Cryptorchidism, Osteoporosis, External genital hypoplasia, Joint hypermobility, Failure to thrive OMIM:600118
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Amenorrhea, P... ORPHA:95619
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Joint stiffness, Osteolytic defects of the distal phalanges of the hand, Dec... OMIM:614008
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:612852
Mehmo Syndrome
Micropenis, Cryptorchidism, Obesity, Hypoplasia of penis, External genital hypoplasia, Diabetes m... ORPHA:85282
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Osteoarthrit... OMIM:277900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:98754
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Hematuria, Proteinuria, Osteoarthritis, Osteolysis, P... ORPHA:77259
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Osteoporosis OMIM:613849
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Osteoporosis, Secondary ameno... ORPHA:79239
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulating gon... ORPHA:759
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Micropeni... OMIM:614837
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Small scrotum, Abnormality of the thyroid gland, Obesity, Hypoplasia of peni... ORPHA:2234
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:98793
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Hypoplasia of the vagina, Ovotestis, Micropenis, Azoospermia... OMIM:278850
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypogonadotropic hypogonadism, Osteoporosis ORPHA:48431
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eunuc... ORPHA:3044
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Cryptorchidism, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Hypog... OMIM:615381
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:177904
Hyperparathyroidism 4
Parathyroid carcinoma, Osteopenia, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Classic Hodgkin Lymphoma
Osteolysis, Weight loss ORPHA:391
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Hypogonadism, Truncal obesity OMIM:268050
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis, Hydroxyprolinuria OMIM:602080
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:177901
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
46,Xx Gonadal Dysgenesis
Osteopenia, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Seco... ORPHA:243
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Insulin-Resistance Syndrome Type B
Glycosuria, Proteinuria, Hyperinsulinemia, Osteoarthritis, Enlarged ovaries, Increased body weigh... ORPHA:2298
Prolactinoma
Irregular menstruation, Erectile dysfunction, Osteoporosis, Central adrenal insufficiency, Adreno... ORPHA:2965
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Decreased serum testosterone concentration, Failure to thrive, Hypogonadism... OMIM:201100
1Q21.1 Microduplication Syndrome
Attention deficit hyperactivity disorder, Failure to thrive, Arthrogryposis multiplex congenita, ... ORPHA:250994
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Joint laxity, Osteoporosis, Recurrent fractures OMIM:248010
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis, Oligomenorrhea, Obesity, Osteoporosis, Pituitary adenoma, Abdominal... OMIM:219090
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Fasting hyperinsulinemia, Osteopenia OMIM:619489
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Osteoporosis ORPHA:79301
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Obesity, Secondary amenorrhea, Type II diab... ORPHA:3085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Obesity, Adrenal hypoplasia, Adrenocorticotropic ... OMIM:609734
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Isosexual precocio... ORPHA:2788
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Hypercalciuria, Osteoporosis, Hy... OMIM:239000
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Neonatal hyperbiliru... ORPHA:73272
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Joint hypermobility, Precocious puberty, Maturity-onset diabetes o... ORPHA:254531
Werner Syndrome
Osteoporosis, Diabetes mellitus, Hypogonadism OMIM:277700
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Abnormality of reproductive sys... ORPHA:1501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Mody
Large for gestational age, Glycosuria, Renal cyst, Pancreatic hypoplasia, Obesity, Abnormality of... ORPHA:552
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypoplasia of penis, Type II diabetes mellitus, Abnormal testis morpho... ORPHA:791
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Osteolysis ORPHA:137834
Mehmo Syndrome
Small for gestational age, Delayed puberty, Micropenis, Obesity, Male hypogonadism, Decreased res... OMIM:300148
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Hypern... ORPHA:90794
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
H Syndrome
Enlarged kidney, Recurrent fractures, Amenorrhea, Micropenis, Azoospermia, Abnormality of the kid... ORPHA:168569
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Hyperhomocystinemia, Tall stature, Hypermethioninemia, ... OMIM:236200
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Adrenocortical adenoma OMIM:248100
Camurati-Engelmann Disease, Type 2
Osteopenia, Delayed puberty, Knee flexion contracture, Hyperostosis, Hip contracture, Disproporti... OMIM:606631
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Osteopenia, Proximal tubulopathy, Hypercalciuria, Renal in... OMIM:613388
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Osteopenia OMIM:619073
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:398073
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... ORPHA:2801
Gonadoblastoma
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... ORPHA:206484
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, N... OMIM:194072
Kallmann Syndrome
Renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogona... ORPHA:478
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Hypogonadism OMIM:615985
Polyembryoma
Elevated alpha-fetoprotein, Irregular menstruation, Increased serum testosterone level, Increased... ORPHA:180229
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Osteolysis, Tarsal synostosis ORPHA:1657
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, Central ad... ORPHA:739
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hyperactivity, Hydrocephalus OMIM:619470
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testosterone concentra... OMIM:241080
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... OMIM:616026
Laurence-Moon Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Displacement of the urethral meatus, Type II diabet... ORPHA:2377
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ventriculomegaly OMIM:613402
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Flexion contracture, Osteolysis, Renal insufficiency, Dyspareunia, Arthritis ORPHA:220393
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Borjeson-Forssman-Lehmann Syndrome
Micropenis, Cryptorchidism, Obesity, Delayed puberty, Hypoplasia of the prostate OMIM:301900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Micropenis, Cryptorchidism, Osteoporosis, Joint hyperm... OMIM:619718
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism, External genital hypoplasia OMIM:615981
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Calcinosis, Osteolysis, D... ORPHA:90154
Pseudopseudohypoparathyroidism
Obesity, Ectopic ossification ORPHA:79445
Kleeblattschaedel
Craniosynostosis, Hydrocephalus OMIM:148800
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Recurrent fractures, Abnormal testis morphology, Abnormal penis morpholog... ORPHA:457059
Felty Syndrome
Weight loss, Arthritis, Synovitis, Recurrent urinary tract infections, Osteolysis, Limitation of ... ORPHA:47612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Gonadal dysgenesis OMIM:615041
Sialidosis Type 2
Flexion contracture, Osteoporosis, Nephropathy ORPHA:87876
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Osteopenia, Beta 2-microglobulinuria, Proteinuria... OMIM:611555
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Osteoporosis OMIM:601220
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Frontal... ORPHA:261102
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... ORPHA:398069
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Osteopenia, Proximal tubulopathy, Osteopor... ORPHA:231222
Estrogen Resistance
Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, Hyperinsulinemia OMIM:615363
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing h... ORPHA:95699
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Richards-Rundle Syndrome
Reduced bone mineral density, Ketonuria, Joint stiffness, Hypergonadotropic hypogonadism ORPHA:1399
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Joint laxity... ORPHA:261476
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Bruck Syndrome 1
Joint laxity, Increased susceptibility to fractures, Osteoporosis, Ankle flexion contracture, Kne... OMIM:259450
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Cryptorchidism, Obesity, Joint hypermobility, Tr... ORPHA:96184
Neural Tube Defects, Susceptibility To
Multiple lipomas, Myelomeningocele, Anencephaly, Lipoma, Hydrocephalus, Spina bifida occulta OMIM:182940
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Parathyroid carcinoma, Hypercalce... ORPHA:143
Aggressive Systemic Mastocytosis
Osteolysis, Osteoporosis, Weight loss, Pathologic fracture ORPHA:98850
47,Xyy Syndrome
Cerebellar dysplasia, Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia... ORPHA:8
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormality of adrena... ORPHA:139507
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteopenia, Osteoporosis ORPHA:319195
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Decreased fertility, Obesity, Hypogonadism ORPHA:2233
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Increased bone mineral density, Diabetes insipidus, Dysuria, Hydro... ORPHA:35687
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Irregular menstruation, Polycystic ovaries, Hypercholesterolemia, Dysmeno... ORPHA:264580
Infantile Systemic Hyalinosis
Osteopenia, Joint stiffness, Recurrent fractures, Polycystic ovaries, Osteoporosis, Increased sus... ORPHA:2176
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Hall-Riggs Mental Retardation Syndrome
Failure to thrive, Osteoporosis OMIM:234250
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased adiponectin l... OMIM:615238
Amish Lethal Microcephaly
Limitation of joint mobility, Organic aciduria, Osteoporosis, Decreased skull ossification ORPHA:99742
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Failure to thrive in infancy, Cryptorchidism, Osteoporosis, Exte... OMIM:176270
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Pachydermoperiostosis
Arthritis, Limitation of joint mobility, Osteoporosis, Elevated circulating growth hormone concen... ORPHA:2796
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Pituitary prolactin cell adenoma, Pancreatic islet cell adenoma, Prima... ORPHA:97289
Macs Syndrome
Decreased body weight, Cryptorchidism, Osteoporosis, Joint hypermobility, Hypergonadotropic hypog... OMIM:613075
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Te... ORPHA:99880
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Osteoporosis OMIM:266510
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Frasier Syndrome
Nephrotic syndrome, Primary amenorrhea, Proteinuria, Gonadal dysgenesis with female appearance, m... ORPHA:347
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Obesity, Hip contracture, Truncal obesity OMIM:618363
Morm Syndrome
Micropenis, Abnormality of the kidney, Truncal obesity ORPHA:75858
Leptin Receptor Deficiency
Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Diabetes mellitus, Pituitary hypothyroi... OMIM:614963
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypokalemia, Hypopla... OMIM:202010
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Irregular menstruation, Polycystic ovaries, Hypercholesterolemia, Dysmeno... ORPHA:79240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Brea... ORPHA:90153
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Osteomalacia, Am... OMIM:134600
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Obesity, Hypoplasia of penis, Hypergonadotropic hypogon... ORPHA:10
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Osteoarthritis, Osteoporosis OMIM:618000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Metacarpal periosteal thickening, Parathyroid hyperplasia, Hyperphosph... OMIM:617994
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Craniosynostosis, Recurrent fractures, Hypercalcemia, Proteinuria, Increased blo... ORPHA:251004
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Obesity, Failure to thrive in infancy OMIM:613670
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, ... ORPHA:361
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Galactosemia
Hypergalactosemia, Decreased fertility, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea,... ORPHA:352
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis OMIM:246550
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, Osteopenia, Micropenis, Osteoporosis, Bilateral cr... ORPHA:2326
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia ORPHA:369873
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Flexion contracture, Hyperinsulinemia, Osteoporosis, Elevated circulating creatine ki... OMIM:613327
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfuncti... ORPHA:91347
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Ureteral stenosis, Nephrocalcinosis, Osteopenia, Renal cyst, Hypercalc... OMIM:615398
Gaucher Disease Type 3
Increased bone mineral density, Hematuria, Proteinuria, Increased susceptibility to fractures, Os... ORPHA:77261
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Hypoplasia of penis, Truncal obesity, Delayed puberty, Abno... ORPHA:633
Chung-Jansen Syndrome
Cryptorchidism, Obesity, Joint hypermobility OMIM:617991
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemic rickets, Parathyroid hyperplasia, Hyperparathyroidism, Hypophosph... OMIM:612089
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Craniosynostosis, Micropenis, Renal hypoplasia, Cryptorchidism, Obesity, Radiouln... ORPHA:171839
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Adrenomyodystrophy
Primary adrenal insufficiency, Megacystis, Failure to thrive, Abnormality of the urinary system, ... ORPHA:977
Cranioectodermal Dysplasia
Joint hyperflexibility, Craniosynostosis, Osteoporosis ORPHA:1515
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Micropenis, Cryptorchidism, Obesity, Arthrogry... OMIM:615547
Propionic Acidemia
Hyperglycinuria, Osteoporosis, Increased level of hippuric acid in urine, Failure to thrive, Hype... OMIM:606054
Summitt Syndrome
Camptodactyly of finger, Obesity, Craniosynostosis, Tall stature ORPHA:3210
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Osteoporosis, Renal amyloidosis, Membranous nephropathy, Decreased r... ORPHA:470
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes melli... ORPHA:79085
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis OMIM:616006
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Nasu-Hakola Disease
Ventriculomegaly, Abnormal adipose tissue morphology, Bone cyst, Hydrocephalus, Reduced bone mine... ORPHA:2770
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Glomerular sclerosis, Proteinuria, Micropenis, Osteoporosis, Thickened glomerular... OMIM:619487
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Osteopenia, Elevated circulating C-reactive protein concentration, Synov... ORPHA:85435