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Gene: Ghrhr MGI:95710

Gene Summary

Name:

growth hormone releasing hormone receptor

Synonyms:

Ghrfr

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular hemoglobin	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.31×10^-05
decreased bone mineral density	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.02×10^-17
increased circulating alanine transaminase level	Ghrhr^{tm1.1(KOMP)Vlcg}	HET	Early adult	3.19×10^-07
hyperactivity	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.01×10^-05
hyperactivity	Ghrhr^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.29×10^-05
decreased bone mineral content	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.35×10^-28
thrombocytopenia	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.48×10^-08
increased total body fat amount	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.29×10^-12
increased circulating triglyceride level	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.87×10^-05
increased grip strength	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.03×10^-05
decreased lean body mass	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.11×10^-10
abnormal sleep behavior	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.65×10^-16
decreased vertical activity	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.38×10^-06
decreased circulating glucose level	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.03×10^-06
abnormal bone structure	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased body length	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased heart weight	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.20×10^-06
abnormal auditory brainstem response	Ghrhr^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.82×10^-05
increased circulating aspartate transaminase level	Ghrhr^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.89×10^-07

Download data as: TSV XLS

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lacZ Expression

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

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

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

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

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
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	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

5 Images

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Auditory Brain Stem Response

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

16 Images

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Electroretinography

Rod waveform (pdf format)

7 Images

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Electroretinography

Cone waveform (pdf format)

7 Images

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Human diseases caused by Ghrhr mutations

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

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

Human diseases associated with Ghrhr (1 diseases)
Human diseases predicted to be associated with Ghrhr (1507 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Isolated Growth Hormone Deficiency, Type Iv		Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr...	OMIM:618157

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

Disease	Matching phenotypes	Source
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus	OMIM:600121
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Schizophrenia 15	Hyperactivity	OMIM:613950
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Short stature, Decreased response to growth hormone stimulation test, Post...	OMIM:615925
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,...	OMIM:615198
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de...	OMIM:601376
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat...	ORPHA:171706
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Diabetes mellitus, Ectopic ossification	OMIM:602475
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join...	OMIM:619598
Insulin Autoimmune Syndrome	Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive...	ORPHA:411593
Short Stature, Dauber-Argente Type	Short stature, Decreased fibular diameter, Osteopenia, Long toe, Arachnodactyly, Long fingers, Fa...	OMIM:619489
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy...	OMIM:609968
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop...	OMIM:300888
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, ...	ORPHA:564003
Short Stature Due To Ghsr Deficiency	Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Hypoglycemia, ...	ORPHA:314811
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	OMIM:618160
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp...	OMIM:601820
Functioning Gonadotropic Adenoma	Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91348
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe...	ORPHA:2114
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Buschke-Ollendorff Syndrome	Flexion contracture, Osteopoikilosis, Joint stiffness, Lower limb asymmetry, Connective tissue nevi	OMIM:166700
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the...	OMIM:607778
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Short stature, Joint laxity, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes melli...	OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac...	OMIM:200700
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, S...	OMIM:262600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Isolated Growth Hormone Deficiency, Type Iv	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr...	OMIM:618157
Mueller-Weiss Syndrome	Pedal edema, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, S...	ORPHA:566943
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Keloids, Increased b...	ORPHA:166119
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Melorheostosis With Osteopoikilosis	Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis, Complete duplication of the...	ORPHA:1879
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Short stature, Reduced subcutaneous adipose tissue, Small pituitary gland, Delayed puberty, Limb ...	OMIM:612079
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Melorheostosis	Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Atyp...	ORPHA:2485
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc...	OMIM:613038
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t...	ORPHA:71526
Non-Functioning Pituitary Adenoma	Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci...	ORPHA:91349
12q14 microdeletion syndrome	Proportionate short stature, Osteopoikilosis	DECIPHER:76
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise	ORPHA:206599
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr...	OMIM:606762
Panhypophysitis	Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level...	ORPHA:95513
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar hypoplasia, Patellar dislocation, Coxa vara, Patellar aplasia, Micrognathia, Flat capita...	OMIM:147891
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate...	ORPHA:324575
Ane Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re...	ORPHA:157954
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Small pituitary gland, Osteopenia, Cryptorchidism,...	OMIM:614880
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel...	ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Type II diabetes mellitus, Gout, Osteoporosis, Increased LDL choleste...	OMIM:610947
Hyperostosis Frontalis Interna	Irregular menstruation, Increased circulating prolactin concentration, Hyperostosis frontalis int...	OMIM:144800
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Isolated Growth Hormone Deficiency, Type Ii	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Severe shor...	OMIM:173100
Gnathodiaphyseal Dysplasia	Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing...	ORPHA:53697
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi...	ORPHA:85188
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Epiphyseal Dysplasia, Multiple, 5	Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem...	OMIM:607078
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges...	ORPHA:3152
Metaphyseal Chondrodysplasia, Spahr Type	Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi...	ORPHA:2501
Non-Acquired Panhypopituitarism	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:90695
Thyroid Hormone Metabolism, Abnormal, 1	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Short stature, In...	OMIM:609698
Short Stature Due To Partial Ghr Deficiency	Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt...	ORPHA:314802
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo...	OMIM:612702
Sheehan Syndrome	Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level...	ORPHA:91355
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu...	ORPHA:280356
Gangliocytoma	Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ...	ORPHA:251937
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype...	ORPHA:300373
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Isolated Growth Hormone Deficiency, Type Ib	Decreased response to growth hormone stimulation test, Short stature	OMIM:612781
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ...	OMIM:617974
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism, Short stature	ORPHA:631
Craniodiaphyseal Dysplasia, Autosomal Dominant	Short stature, Craniofacial hyperostosis, Elevated circulating parathyroid hormone level, Diaphys...	OMIM:122860
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t...	ORPHA:3416
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ...	OMIM:600785
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Large fo...	ORPHA:276580
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Thrombocytopenia, Abnor...	ORPHA:3319
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Short femoral neck, Small for gestational age, Delayed ossification of car...	OMIM:618392
Epiphyseal Dysplasia, Multiple, 7	Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip...	OMIM:617719
Pituitary Hormone Deficiency, Combined, 3	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi...	OMIM:221750
Pituitary Carcinoma	Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti...	ORPHA:300385
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi...	ORPHA:231720
Pituitary Dwarfism With Large Sella Turcica	Growth delay, Hypothyroidism, Decreased response to growth hormone stimulation test, Pituitary dw...	OMIM:262710
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Anti-thyroid peroxidase antibody ...	OMIM:274300
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy...	OMIM:147630
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de...	OMIM:611497
Dysplastic Cortical Hyperostosis	Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowt...	ORPHA:2204
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender long bones with narrow diaphyses, Small for gestational age, Failure to thrive, Dense met...	ORPHA:50811
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity, Short stature	ORPHA:329249
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Primary amenorrhea, Precocious puberty, Hypogonadism, Decreased testicula...	ORPHA:398079
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Genu varum, Rhizomelia, Coxa vara, Decreased hip abduction, Short femoral neck, Flared iliac wing...	OMIM:183849
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Short ...	OMIM:300123
Central Precocious Puberty	Isosexual precocious puberty, Premature thelarche, Obesity, Proportionate short stature, Increase...	ORPHA:759
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Large for gestational age, ...	ORPHA:276575
Epiphyseal Dysplasia, Multiple, 1	Short phalanx of finger, Broad femoral neck, Genu valgum, Generalized joint laxity, Avascular nec...	OMIM:132400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Precocious puberty, Short stature, Small for gestational age, Diabetic ketoacid...	OMIM:262190
Glycogen Storage Disease Vi	Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in...	OMIM:232700
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Osteope...	OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Broad foot, Hyperinsulinemia, Short toe, Short stature, Keloids, Type II diabetes mellitus, Hyper...	ORPHA:3085
Isolated Growth Hormone Deficiency, Type Ia	Reduced circulating growth hormone concentration, Severe short stature, Hypoglycemia, Decreased s...	OMIM:262400
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ...	OMIM:166740
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar...	ORPHA:2232
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Thyroid hypoplasia, Pituitary dwarfism, Decreased circulating T4 concentration, Decreased circula...	ORPHA:226307
Transient Neonatal Diabetes Mellitus	Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci...	ORPHA:99886
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Reduced subcutaneous ...	OMIM:248370
Panhypopituitarism, X-Linked	Pituitary dwarfism, Panhypopituitarism	OMIM:312000
Mandibuloacral Dysplasia	Hyperinsulinemia, Contractures of the large joints, Acroosteolysis of distal phalanges (feet), Mi...	ORPHA:2457
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn...	ORPHA:90650
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Insulin resistance, Diabetes mellitus	ORPHA:79084
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Growth delay, Decreased serum insulin-like growth factor 1, Truncal obesity	ORPHA:140941
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Micrognathia, Hip dysplasia, Maternal ...	ORPHA:1988
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Eiken Syndrome	Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met...	ORPHA:79106
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ...	ORPHA:739
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Gnathodiaphyseal Dysplasia	Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ...	OMIM:166260
Hypergonadotropic Hypogonadism-Cataract Syndrome	Decreased fertility, Short stature, Absence of secondary sex characteristics, Increased circulati...	ORPHA:2410
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short phalanx of finger, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalange...	OMIM:608612
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met...	ORPHA:174
Syndromic X-Linked Intellectual Disability 7	Short stature, Obesity, Hypogonadism, Cryptorchidism	ORPHA:85274
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Brachyolmia Type 1, Hobaek Type	Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el...	OMIM:271530
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim...	ORPHA:750
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Magel2-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Primary amenorrhea, Precocious puberty, Flexion contracture, Hypogonadism...	ORPHA:398069
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost...	OMIM:602080
Estrogen Resistance Syndrome	Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr...	ORPHA:785
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre...	OMIM:262700
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Combined Pituitary Hormone Deficiencies, Genetic Forms	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:95494
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Short stature, Abnormal hypothalamus morph...	OMIM:614963
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Short stature	ORPHA:369873
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o...	ORPHA:54595
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Septooptic Dysplasia	Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati...	OMIM:182230
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Neutral Lipid Storage Disease With Myopathy	Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Diabetes me...	OMIM:610717
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Upper limb undergrowth, Limited elbow movement, Short femoral neck, Short long bone,...	ORPHA:94068
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero...	OMIM:607616
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissu...	OMIM:604367
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t...	OMIM:608600
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodys...	ORPHA:528
Epiphyseal Dysplasia, Multiple, 4	Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Brachyda...	OMIM:226900
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Short stature, Wide distal...	OMIM:614856
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa...	ORPHA:91347
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F	ORPHA:46532
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98754
Lethal Recessive Chondrodysplasia	Short long bone, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergro...	ORPHA:1423
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr...	ORPHA:276556
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Birth length less than 3rd percentile, Sma...	OMIM:300148
Diastrophic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera...	ORPHA:628
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Short stature, Decreased testicular size, Small for gestational age, Increased circ...	OMIM:300869
Forsythe-Wakeling Syndrome	Macrotia, Decreased body weight, Low-set ears, Thrombocytopenia, Osteoporosis	OMIM:613606
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Decreased response to growth hormone stimulation test, Ectopic ossification, S...	ORPHA:79444
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Genu varum, Broad femoral neck, Patellar hypoplasia, Generalized joint laxity, Short femoral neck...	OMIM:609325
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature...	ORPHA:93284
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem...	ORPHA:263455
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Lethargy, Low-set ears, Pathologic...	OMIM:307030
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Fractured radius, Short ribs, Small for gestational age, Micrognathia, Short...	OMIM:616897
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f...	ORPHA:254516
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Lipodystrophy, Diabe...	OMIM:612526
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity, Increased LDL cholesterol concentration, ...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Osteoporosis	Osteoporosis	OMIM:166710
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Flexion contracture, Tapered finger, Short femoral neck, Flat capital femoral...	ORPHA:157965
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Gait disturbance, Elevated circulating creatine kinase concentration, ...	OMIM:616516
Retinitis Pigmentosa	Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity	ORPHA:791
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98793
Insulinoma	Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr...	ORPHA:97279
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui...	ORPHA:91351
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Hyperinsulinemia, Obesity, Insulin resistance	OMIM:617885
Joubert Syndrome 26	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism...	OMIM:616784
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177904
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Xq27.3Q28 Duplication Syndrome	Hypogonadism, Short stature, Decreased testicular size, Premature ovarian insufficiency, Failure ...	ORPHA:261483
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177901
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis	ORPHA:71289
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Short stature	ORPHA:1261
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:67045
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism	OMIM:615987
Buschke-Ollendorff Syndrome	Flexion contracture, Recurrent fractures, Connective tissue nevi, Short stature, Abnormal metaphy...	ORPHA:1306
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism	OMIM:615983
Meningioma	Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre...	ORPHA:2495
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Short stature, Small pituitary gland, Ecto...	OMIM:619476
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity	OMIM:238700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:398073
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Decreased response to growth hormone stimulation test, Ectopic ossification, S...	ORPHA:79443
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Severe short st...	OMIM:275400
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia	OMIM:615924
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Short stature, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Cryptorchidism, Ob...	ORPHA:3055
Atelosteogenesis Type Ii	Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus adduc...	ORPHA:56304
Mody	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Abn...	ORPHA:552
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Short femoral neck, Short stature, Slender long bones with narrow diaphyses, Small f...	OMIM:608154
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
Perrault Syndrome 4	Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenorrhea,...	OMIM:615300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Femoral bowing, Short femur, Brachydactyly, ...	ORPHA:440354
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:66628
Distal Osteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis	OMIM:126250
Osteopetrosis, Autosomal Dominant 1	Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi...	OMIM:607634
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr...	OMIM:603552
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Vitamin D-Dependent Rickets, Type 3	Genu varum, Metaphyseal cupping, Bowing of the legs, Elevated circulating parathyroid hormone lev...	OMIM:619073
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia, Decreased body weight, Failure to thrive	ORPHA:99852
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis	OMIM:241520
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t...	ORPHA:79644
Donohue Syndrome	Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Long foot, Postprandial hyperglycemia,...	OMIM:246200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem...	ORPHA:293964
Septo-Optic Dysplasia Spectrum	Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Short stature, Maternal diabetes...	ORPHA:3157
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia	OMIM:608898
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Hyperactivity, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subc...	ORPHA:363400
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ...	ORPHA:970
Pseudohypoparathyroidism, Type Ic	Hypothyroidism, Enamel hypoplasia, Elevated circulating thyroid-stimulating hormone concentration...	OMIM:612462
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating...	OMIM:613101
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:179494
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density...	OMIM:259700
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Ivic Syndrome	Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta...	OMIM:147750
Intermediate Osteopetrosis	Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor...	ORPHA:210110
Bangstad Syndrome	Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l...	ORPHA:1227
Fg Syndrome Type 1	Short stature, Small pituitary gland, Progressive flexion contractures, Inguinal hernia, Cryptorc...	ORPHA:93932
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Flar...	OMIM:215045
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Short 5th metacarpal, Short stature	ORPHA:66518
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester...	OMIM:144300
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypogonadism, Short stature, Hypoglycemia, Postnatal growth retardation	OMIM:616113
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Decreased body weight, Fasting hypoglycemia, Weight loss, Increased serum testo...	ORPHA:2298
Weismann-Netter Syndrome	Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn...	ORPHA:3344
Albers-Schönberg Osteopetrosis	Genu valgum, Osteomyelitis, Recurrent fractures, Short stature, Arthritis, Abnormal metacarpal mo...	ORPHA:53
Hypothyroidism, Congenital, Nongoitrous, 4	Hypothyroidism, Wide anterior fontanel, Decreased thyroid-stimulating hormone level, Decreased ci...	OMIM:275100
Monosomy 5P	Finger syndactyly, Recurrent fractures, Small hand, Microretrognathia, Joint hyperflexibility, Ab...	ORPHA:281
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici...	OMIM:609734
Culler-Jones Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Short stature, Hypopituitarism, ...	OMIM:615849
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Osteopenia, Hypocholesterolemia, Thrombocytopenia, Splenomegaly	OMIM:610539
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Coxoauricular Syndrome	Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality of femur morphol...	ORPHA:1508
Osteogenesis Imperfecta, Type X	Thin bony cortex, Dentinogenesis imperfecta, Genu valgum, Generalized joint laxity, Rhizomelia, S...	OMIM:613848
Pelviscapular Dysplasia	Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S...	ORPHA:93333
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Pycnodysostosis	Increased bone mineral density, Micrognathia, Hypoplastic iliac wing, Increased susceptibility to...	ORPHA:763
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Joint laxity, Elevated circulating creatine kinase concentration, Failur...	OMIM:614727
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante...	ORPHA:91350
Prolactinoma	Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency...	ORPHA:2965
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Ataxia, Dysmetria, Decreased nerve conductio...	OMIM:159550
Growth Hormone Insensitivity Syndrome	Diabetes insipidus, Short stature, Hypogonadism, Type II diabetes mellitus, Insulin resistance, F...	ORPHA:181393
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Hypoglycemia, Intrauterine growth retardation	OMIM:223500
Galactokinase Deficiency	Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hypergonadotropic h...	ORPHA:79237
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Paget Disease Of Bone 5, Juvenile-Onset	Recurrent fractures, Short stature, Increased bone mineral density, Short humerus, Ankylosis, Fai...	OMIM:239000
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Overfriendliness	OMIM:618010
Bardet-Biedl Syndrome 16	Short stature, Obesity, Hypogonadism	OMIM:615993
Atelosteogenesis, Type I	Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di...	OMIM:108720
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ...	OMIM:166600
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Kyphomelic Dysplasia	Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Limitation of ...	OMIM:211350
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Insulin resistance, Lipodystrophy, Diabetes mellitus, Loss of s...	OMIM:615381
Lipase Deficiency, Combined	Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia	OMIM:245900
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f...	ORPHA:1190
Hernández-Aguirre Negrete Syndrome	Delayed puberty, Obesity	ORPHA:2139
Achondroplasia	Genu varum, Generalized joint laxity, Rhizomelia, Short ribs, Short femoral neck, Radial bowing, ...	OMIM:100800
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity	OMIM:614962
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Abnormality of limb bone morpho...	ORPHA:85435
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me...	ORPHA:93356
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:293978
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Coxa valga, Increased bone mineral density, Micrognathia, Flat acetab...	ORPHA:163649
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Decreased circulating ...	OMIM:619795
Werner Syndrome	Chondrocalcinosis, Small hand, Short stature, Hypogonadism, Thyroid carcinoma, Increased bone min...	ORPHA:902
Smith-Magenis syndrome	Hyperactivity	DECIPHER:8
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Abnormal foot ...	ORPHA:85184
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoatrophy, Hypertriglyc...	OMIM:613877
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:2741
Narcolepsy 7	Type II diabetes mellitus, Narcolepsy, Obesity	OMIM:614250
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothala...	ORPHA:2183
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Ovarian Dysgenesis 4	Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir...	OMIM:616185
Metaphyseal Anadysplasia 2	Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy...	OMIM:613073
Dysosteosclerosis	Recurrent fractures, Short stature, Increased bone mineral density, Coarse metaphyseal trabecular...	ORPHA:1782
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Short femur, Femoral bowing, Brachydactyly, Abnormal sacroiliac joint morpholog...	ORPHA:1860
Insulin-Like Growth Factor I Deficiency	Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1, Osteopenia, E...	OMIM:608747
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Short f...	OMIM:607143
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Majeed Syndrome	Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit...	ORPHA:77297
Orthostatic Hypotension 1	Retrograde ejaculation, Reduced circulating prolactin concentration	OMIM:223360
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort...	OMIM:144750
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath...	OMIM:617519
Poems Syndrome	Hypothyroidism, Increased circulating prolactin concentration, Metaphyseal sclerosis, Weight loss...	ORPHA:2905
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Hypogonadism, Small for gestational age, Micrognathia, Clinodactyly, Intrauterine ...	ORPHA:73272
Perlman Syndrome	Inguinal hernia, Hyperinsulinemia, Micrognathia, Femoral hernia	ORPHA:2849
X-Linked Intellectual Disability, Van Esch Type	Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe...	ORPHA:163976
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Short stature, Failure to thrive, Delayed puberty, Hypoglycemia, Osteopenia, Growth delay, Osteop...	ORPHA:369
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density	ORPHA:1114
X-Linked Hypophosphatemia	Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced...	ORPHA:89936
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:144600
Endocardial Fibroelastosis	Anterior hypopituitarism, Cryptorchidism	ORPHA:2022
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea	OMIM:233300
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia, Hearing impairment, Cardiomyopathy	ORPHA:67048
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Decreased body weight, Short stature, Small for gestational age, Clinodactyly of the...	ORPHA:231140
Glycine Encephalopathy	Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia	OMIM:605899
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr...	ORPHA:52901
Camurati-Engelmann Disease	Genu valgum, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cortical thicke...	OMIM:131300
Malaria	Anemia, Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration...	ORPHA:673
Dysosteosclerosis	Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Short ...	OMIM:224300
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Short stature, Pseudohypoparathyroidism, Obesity, Osteoporosis	OMIM:612463
Osteopetrosis, Autosomal Recessive 4	Anemia, Recurrent fractures, Optic atrophy, Osteopetrosis, Increased bone mineral density, Reticu...	OMIM:611490
Biemond Syndrome Type 2	Short stature, Hypogonadism, Delayed puberty, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Insulin resistance, Unicameral bone cyst, Calf muscle pseudohypertrophy, Genera...	ORPHA:79086
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Osteopetrosis, Autosomal Recessive 8	Anemia, Optic atrophy, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly, Facial p...	OMIM:615085
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Thalidomide Embryopathy	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly...	ORPHA:3312
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Flexion contracture, Insulin resistance, Lipodystrophy, Failure to thrive, Oste...	OMIM:613327
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Sensorineural hearing impairment, Ventricular septal defect, Optic atrophy,...	ORPHA:49827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil...	ORPHA:158057
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Anterior pituitary hypoplasia, Pituitary hypothyroidism	OMIM:619983
Epiphyseal Dysplasia, Baumann Type	Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact...	OMIM:610797
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Decreased fertility, Short stature, Hypogonadism, Abnormal testis morphology, Obesity	ORPHA:2233
Beta-Thalassemia	Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ...	ORPHA:848
Prader-Willi Syndrome	Precocious puberty, Adrenal insufficiency, Radial deviation of finger, Short palm, Abdominal obes...	OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:301008
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hyperparathyroidism, Transient Neonatal	Recurrent fractures, Short ribs, Short long bone, Short femur, Femoral bowing, Inguinal hernia, F...	OMIM:618188
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasia	OMIM:231095
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sensorineural hearing impairment, Ventricular septal defect, Optic atrophy, Sideroblastic anemia,...	OMIM:249270
Lipodystrophy, Familial Partial, Type 2	Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d...	OMIM:151660
Sickle Cell Anemia	Osteomyelitis, Hemolytic anemia, Elevated circulating creatinine concentration, Unconjugated hype...	ORPHA:232
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Hernia, Short stature, Small for gestation...	ORPHA:94065
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia, Splenomegaly	OMIM:614480
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development...	OMIM:610628
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Clinodactyly of the 5th finger, Osteopoikilosis, Failure to thrive, ...	ORPHA:94063
Osteopetrosis, Autosomal Recessive 2	Anemia, Osteomyelitis, Cranial nerve compression, Optic atrophy, Recurrent fractures, Osteopetros...	OMIM:259710
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co...	OMIM:228300
Lipe-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ...	ORPHA:435660
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test, Short stature, Anti-acetylcholine receptor...	OMIM:616224
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Joint...	OMIM:616222
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg...	OMIM:307800
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In...	ORPHA:399805
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ...	ORPHA:93307
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Narcolepsy Type 1	Obesity	ORPHA:2073
Chromosome Xq26.3 Duplication Syndrome	Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma,...	OMIM:300942
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Failure to thrive, Decreased response to growth hormone stimulation test, Severe short stature	OMIM:245590
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Abnormality of thyroid physiology, Anti-thyroid peroxidase antibody posit...	ORPHA:95715
Pseudohypoparathyroidism, Type Ia	Hypothyroidism, Enamel hypoplasia, Hypogonadism, Short stature, Elevated circulating parathyroid ...	OMIM:103580
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Ataxia, ...	OMIM:267700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Obesity, Craniosynostosis	ORPHA:88643
Glycogen Storage Disease Ixa1	Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly	OMIM:306000
Cortisone Reductase Deficiency 1	Infertility, Precocious puberty, Obesity, Oligomenorrhea	OMIM:604931
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Propionic Acidemia	Anemia, Hyperglycinemia, Pancytopenia, Failure to thrive, Hypoglycemia, Hyperammonemia, Lethargy,...	OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Short stature	OMIM:619058
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Osteopenia, Cryptorchidism, Craniosynostos...	OMIM:614732
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Obesity, Short stature, Cryptorchidism	OMIM:301900
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad...	ORPHA:189427
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Primary Pigmented Nodular Adrenocortical Disease	Irregular menstruation, Increased circulating cortisol level, Abnormal subcutaneous fat tissue di...	ORPHA:189439
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity, Postnatal growth retardation, Intrauterine growth retardation	ORPHA:254525
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Failure to thrive, Osteopenia, Simple ear, Abnormal ...	OMIM:617475
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Mehmo Syndrome	Diabetes mellitus, Obesity, Growth delay, Cryptorchidism	ORPHA:85282
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy...	OMIM:300635
Adrenocortical Carcinoma	Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve...	ORPHA:1501
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Autosomal Recessive Hypophosphatemic Rickets	Genu varum, Coxa vara, Short stature, Osteomalacia, Abnormal trabecular bone morphology, Increase...	ORPHA:289176
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Short stature, Micrognathia, Hypoglycemia, Intrauterine growth retardati...	ORPHA:48431
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Elbow flexion contracture, Achilles tendon contracture, Gait ...	ORPHA:98855
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism, R...	OMIM:602152
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Bardet-Biedl Syndrome 4	Obesity, Hypogonadism, Cryptorchidism	OMIM:615982
Rhyns Syndrome	Hypopituitarism, Osteopenia	ORPHA:140976
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
Hyperprolinemia, Type I	Hyperactivity, Hyperprolinemia	OMIM:239500
Smith-Magenis Syndrome	Hyperactivity, EEG abnormality, Abnormal heart morphology, Hypercholesterolemia, Hypertriglycerid...	OMIM:182290
Hydranencephaly	Thalamic edema, Atrophic pituitary gland, Dysgenesis of the thalamus, Intrauterine growth retarda...	ORPHA:2177
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Decreased body weight, Calf muscle hypertrophy, ...	ORPHA:79474
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Lethargy, Thrombocytop...	ORPHA:79312
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Intrauterine growth retardatio...	ORPHA:254531
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Developmental And Epileptic Encephalopathy 43	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617113
Combined Oxidative Phosphorylation Deficiency 25	Decreased response to growth hormone stimulation test, Short stature	OMIM:616430
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Short foot, Small hand, Micrognathia, Patc...	OMIM:241410
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Folate Malabsorption, Hereditary	Leukopenia, Ataxia, Failure to thrive, Athetosis, Thrombocytopenia, Neutropenia, Folate-responsiv...	OMIM:229050
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age, Hypogonadism	OMIM:617119
Graves Disease, Susceptibility To, 1	Hyperhidrosis, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ...	OMIM:275000
Alstrom Syndrome	Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul...	OMIM:203800
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Elbow flexion contracture, Achilles tendon contracture, Gait ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Elbow flexion contracture, Achilles tendon contracture, Gait ...	ORPHA:98853
Cortisone Reductase Deficiency 2	Obesity, Premature pubarche	OMIM:614662
Boomerang Dysplasia	Abnormal bone ossification, Decreased response to growth hormone stimulation test, Poorly ossifie...	ORPHA:1263
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Short stature, Decreased circul...	OMIM:613986
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorch...	ORPHA:1827
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Optic atrophy, Choreoathetosis, Ataxia, Hyperammonemia, Macrocytic anemia, Th...	ORPHA:27
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous...	OMIM:598500
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased fertility, Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mel...	ORPHA:2234
Acromesomelic Dysplasia 2C	Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc...	OMIM:201250
Kallmann Syndrome	Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp...	ORPHA:478
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Foot oligodactyly, Short femur	OMIM:601357
Kearns-Sayre Syndrome	Anterior hypopituitarism	ORPHA:480
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Decreased response to growth hormone stimulation test, Short stature, Increase...	ORPHA:94089
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Hypoplastic frontal sinuses, Short thumb, Increased bone mineral density...	ORPHA:90652
Macrosomia Adiposa Congenita	Obesity, Large for gestational age, Adrenocortical adenoma	OMIM:248100
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Lipodystrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Lo...	ORPHA:2348
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito...	ORPHA:320401
Fanconi-Bickel Syndrome	Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Rickets, Failure to thrive, Diabetes me...	ORPHA:2088
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Insulin-resistant diabetes mellitus	ORPHA:436182
Premature Ovarian Failure 17	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Carcinoma Of Esophagus	Obesity, Weight loss	ORPHA:70482
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv...	OMIM:616648
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Maternal diabetes, Insulin resistance, Hypertrophic cardiomyopathy, Diabetes melli...	ORPHA:79083
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h...	OMIM:125250
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Elbow flexion contracture, Achilles tendon contracture, Gait ...	ORPHA:98863
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Pituitary Gigantism	Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase...	ORPHA:99725
Idiopathic Congenital Hypothyroidism	Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:95717
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Hypophosphatemic Bone Disease	Rickets, Bowing of the legs, Osteomalacia	OMIM:146350
Mpi-Cdg	Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Anterior hypopituitarism, Camptodactyly, Joint contracture of the hand	OMIM:601016
Pseudopseudohypoparathyroidism	Short stature, Ectopic ossification, Obesity, Elevated circulating parathyroid hormone level, Abn...	ORPHA:79445
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Lipodystrophy, Increased intraabdominal fat, Hyperlipidemia, Insulin-resistan...	ORPHA:79085
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin...	ORPHA:293987
Dysostosis, Stanescu Type	Short stature, Massively thickened long bone cortices, Increased bone mineral density, Brachydact...	ORPHA:1798
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Osteolytic defects of the phalanges of the hand, Increased facial adipose tissue, Acroosteolysis ...	ORPHA:280365
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Splenomegaly, Increased body weight, Abnormal erythrocyte enzyme level, Elevated circulat...	ORPHA:264580
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Impaired sensitivity to thyroid hormone, Growth delay, Omphalocele, Co...	OMIM:614450
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity, Short stature	ORPHA:177910
Laron Syndrome	Short toe, Micrognathia, Brachydactyly, Severe short stature, Delayed puberty, Hypoglycemia, Trun...	ORPHA:633
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Failure to thrive, Decreased response to growth hormone stimulation test, Short stature	OMIM:615286
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Macrotia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mel...	OMIM:269700
Chromosome 14Q11-Q22 Deletion Syndrome	Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Bi...	OMIM:613457
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Flexion contracture, Arthritis, Lymphopenia, Lipodystrophy, Failure to thrive, Panniculit...	OMIM:617591
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Short Stature-Wormian Bones-Dextrocardia Syndrome	Anterior hypopituitarism, Camptodactyly of finger, Short stature, Cryptorchidism	ORPHA:2863
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Truncal obesity, Short stature, Cryptorchidism	ORPHA:3459
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Amegakaryocytic Thrombocytopenia, Congenital	Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia	OMIM:604498
X-Linked Hypohidrotic Ectodermal Dysplasia	Anterior hypopituitarism, Hypohidrosis, Type I diabetes mellitus	ORPHA:181
Kenny-Caffey Syndrome, Type 2	Short stature, Small for gestational age, Increased bone mineral density, Abnormality of the medu...	OMIM:127000
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Immunodeficiency 54	Adrenocorticotropic hormone excess, Short stature, Adrenal insufficiency, Failure to thrive, Intr...	OMIM:609981
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Splenomegaly, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, R...	ORPHA:79240
Ovarian Dysgenesis 8	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618187
Deeah Syndrome	Hypohidrosis, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes...	OMIM:619004
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue i...	ORPHA:435651
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Finger clinodactyly, Enamel hypomineralization	ORPHA:3352
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles...	OMIM:618620
Wt Limb-Blood Syndrome	Sensorineural hearing impairment, Radioulnar synostosis, Pancytopenia, Joint contracture of the 5...	OMIM:194350
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Panniculiti...	OMIM:618398
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p...	OMIM:608594
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity, Hypogonadism	OMIM:615981
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Orofaciodigital Syndrome Vi	11 pairs of ribs, Preaxial hand polydactyly, Short stature, Toe syndactyly, Micrognathia, Preaxia...	OMIM:277170
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Sho...	OMIM:618347
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Thrombocytopenia, Sideroblastic anemia, Ventricular septal defect, EEG abnormality	OMIM:617021
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
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Cleidocranial Dysplasia 2	Genu valgum, Coxa valga, Aplastic clavicle, Delayed ossification of carpal bones, Pes planus, Dow...	OMIM:620099
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra...	OMIM:615558
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Disproportionate short-limb short stature, Flexion contracture	OMIM:619479
Acute Myelomonocytic Leukemia	Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea...	OMIM:308750
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity, Short stature	OMIM:616756
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism	OMIM:603233
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ...	ORPHA:158061
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Summitt Syndrome	Obesity, Craniosynostosis	OMIM:272350
Citrullinemia Type Ii	Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Acute hyperammonemia, Hypoproteinemia,...	ORPHA:247585
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short stature, Hypogonadism, Cryptorchidism, Obesity, Osteoporosis, Flex...	ORPHA:3409
Septopreoptic Holoprosencephaly	Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty	ORPHA:280195
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Lenz-Majewski Hyperostotic Dwarfism	Knee flexion contracture, Enamel hypoplasia, Anterior pituitary hypoplasia, Short stature, Elbow ...	OMIM:151050
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Failure to thrive...	ORPHA:71212
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Osteopathia Striata-Cranial Sclerosis Syndrome	Large iliac wing, Increased bone mineral density, Micrognathia, Coarse metaphyseal trabecularizat...	ORPHA:2780
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia	ORPHA:295
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni...	OMIM:615285
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Pituitary adenoma, Oligomenorrhea, Obesity, Abdominal obesity, ...	OMIM:219090
Ataxia With Vitamin E Deficiency	Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis,...	OMIM:277460
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Ataxia, Failure ...	OMIM:603553
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Hypochromic microcytic anemia, Increased circulating ferriti...	ORPHA:3240
Laurence-Moon Syndrome	Type II diabetes mellitus, Obesity, Short stature, Cryptorchidism	ORPHA:2377
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia	OMIM:133180
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Sensorineural hearing impairment, Impaired platelet aggr...	OMIM:124900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Umbilical hernia, Elevated circulating thyroid-stimulating hormone concentration, Large for gesta...	ORPHA:226313
Congenital Toxoplasmosis	Anemia, Cardiomegaly, Thrombocytopenia, Failure to thrive in infancy, Hearing impairment	ORPHA:858
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,...	OMIM:112250
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Loss of ambulation, Splenomegaly	OMIM:615010
Werner Syndrome	Diabetes mellitus, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Reduced bone mine...	OMIM:277700
Acrodysostosis 2 With Or Without Hormone Resistance	Advanced ossification of carpal bones, Diabetes mellitus, Cryptorchidism, Congenital hypothyroidi...	OMIM:614613
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi...	OMIM:119600
Bardet-Biedl Syndrome 19	Obesity, Hypogonadism	OMIM:615996
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ...	OMIM:278000
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Papular Xanthoma	Histiocytosis, Hyperlipidemia	ORPHA:158008
Rajab Interstitial Lung Disease With Brain Calcifications 2	Joint hypermobility, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity	ORPHA:352530
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Abnormal metaphysis morphology, Short palm, Cranial hyperostosis,...	ORPHA:2658
Paget Disease Of Bone 3	Osteolysis, Patchy osteosclerosis, Fractures of the long bones	OMIM:167250
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe...	OMIM:609441
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency, Short stature	ORPHA:869
Rabson-Mendenhall Syndrome	Polydactyly, Hypothyroidism, Precocious puberty, Increased serum testosterone level, Short statur...	ORPHA:769
Nephrotic Syndrome, Type 14	Sensorineural hearing impairment, Lymphopenia, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoal...	OMIM:617575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Optic atrophy, Choreoathetosis, Hyperammonemia, Lethargy, Thrombocytopenia, Neutropenia	ORPHA:289916
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Short stature	ORPHA:276630
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Hyperthyroidism, Nonautoimmune	Hyperthyroidism, Anti-thyroid peroxidase antibody positivity, Small for gestational age, Increase...	OMIM:609152
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism	OMIM:603373
Morgagni-Stewart-Morel Syndrome	Hypothyroidism, Hyperostosis frontalis interna, Abnormality of the endocrine system, Diabetes mel...	ORPHA:77296
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re...	OMIM:613673
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita...	ORPHA:1435
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Atrial septal defect, Inguinal he...	OMIM:614857
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo...	OMIM:308700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor...	OMIM:614736
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Inappropriate...	OMIM:301035
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto...	OMIM:187800
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad foot, Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral...	ORPHA:2502
Ring Chromosome Y Syndrome	Abnormal spermatogenesis, Short stature, Azoospermia, Male hypogonadism, Unilateral cryptorchidis...	ORPHA:261529
Desmosterolosis	Increased bone mineral density, Micrognathia, Metatarsus adductus, Failure to thrive, Severe shor...	ORPHA:35107
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:219080
Lysinuric Protein Intolerance	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Lethargy, Increased serum zinc, Oral ...	ORPHA:470
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,...	OMIM:300554
Tangier Disease	Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Decreased...	OMIM:205400
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Sensorineural hearing impairment, Impaired ADP-induced platelet aggregation, Impaired epinephrine...	OMIM:155100
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Obesity, Failure to thrive in infancy	OMIM:613670
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Polycystic Ovary Syndrome 1	Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Solitary Fibrous Tumor/Hemangiopericytoma	Weight loss, Hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia, Recurrent hypoglycemia	ORPHA:2126
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud...	ORPHA:1215
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Bardet-Biedl Syndrome 8	Obesity, Hypogonadism	OMIM:615985
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Blomstrand Lethal Chondrodysplasia	Metaphyseal cupping, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Increased bone ...	ORPHA:50945
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypersplenism, Acute promyelocyti...	ORPHA:77293
Pycnodysostosis	Aplastic clavicle, Short stature, Increased bone mineral density, Micrognathia, Absent frontal si...	OMIM:265800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammone...	OMIM:251000
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor...	ORPHA:52368
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Rheumatoi...	ORPHA:206572
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati...	OMIM:613239
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:94086
Pallister-Hall Syndrome	Precocious puberty, Gonadotropin deficiency, Thyroid hypoplasia, Primary adrenal insufficiency, S...	ORPHA:672
48,Xxyy Syndrome	Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Inguinal hernia, ...	ORPHA:10
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Primary hyperco...	OMIM:615830
Transaldolase Deficiency	Anemia, Atrial septal defect, Hepatosplenomegaly, Biventricular hypertrophy, Increased serum bile...	ORPHA:101028
Sanjad-Sakati Syndrome	Small hand, Short stature, Micrognathia, Patchy osteosclerosis, Hypoparathyroidism, Severe intrau...	ORPHA:2323
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 54	Obesity, Intrauterine growth retardation, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:619737
Cornelia De Lange Syndrome 5	Hypogonadism, Short stature, Decreased testicular size, Cryptorchidism, Truncal obesity, Postnata...	OMIM:300882
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Sensorineural hearing impairment, Congenital thrombocytopenia, Radioulnar synostosis, Lim...	OMIM:616738
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog...	OMIM:606407
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Obesity, Lipoma, Postnatal growth retardation	ORPHA:480907
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc...	OMIM:600501
Smith-Magenis Syndrome	Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Gait disturbance, Attention...	ORPHA:819
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ...	ORPHA:457240
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu...	OMIM:618086
Beta-Thalassemia Intermedia	Increased susceptibility to fractures, Abnormality of iron homeostasis, Increased HbA2 hemoglobin...	ORPHA:231222
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
H Syndrome	Hypertriglyceridemia, Hernia, Recurrent fractures, Camptodactyly, Hepatosplenomegaly, Lipodystrop...	ORPHA:168569
Gaucher Disease Type 1	Pedal edema, Increased bone mineral density, Osteolysis, Delayed puberty, Osteopenia, Growth dela...	ORPHA:77259
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:177907
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
8p23.1 deletion syndrome	Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Congenital diaphragmatic hern...	DECIPHER:39
Wolfram Syndrome 1	Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Sideroblastic anemia, Atax...	OMIM:222300
Sengers Syndrome	Hypertrophic cardiomyopathy, Thrombocytopenia	OMIM:212350
Thyrocerebrorenal Syndrome	Thrombocytopenia, Sensorineural hearing impairment, Nonprogressive cerebellar ataxia	ORPHA:3327
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Hypogonadotropic hypogonadism, Hypo...	OMIM:206900
Delayed Puberty, Self-Limited	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru...	OMIM:619613
Schwartz-Jampel Syndrome	Metatarsus valgus, Wrist flexion contracture, Decreased body weight, Coxa valga, Increased bone m...	ORPHA:800
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari...	OMIM:601455
Felty Syndrome	Anemia, Weight loss, Cellulitis, Arthritis, Synovitis, Limitation of joint mobility, Pericarditis...	ORPHA:47612
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad...	OMIM:610475
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619834
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Short stature, Abnormality of thyroid phys...	ORPHA:289494
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Aggressive Systemic Mastocytosis	Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteol...	ORPHA:98850
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Limb ...	OMIM:210710
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Advanced ossification of carpal bones, Hip contracture, Short stature, Disprop...	OMIM:618363
Gamma-Heavy Chain Disease	Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysi...	ORPHA:100026
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Weight loss, Premature ovarian insufficiency, Decreased circul...	ORPHA:199299
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Sitosterolemia 1	Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Reticulocytos...	OMIM:210250
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t...	OMIM:614837
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypothyroidism, Short stature, Hip dislocation, Failure to thrive, Hypoglycemia, Limb undergrowth...	OMIM:618005
Atkin-Flaitz Syndrome	Macroorchidism, Obesity, Short stature	ORPHA:1193
Catel-Manzke Syndrome	Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Joint...	OMIM:616145
Late-Infantile/Juvenile Krabbe Disease	Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia...	ORPHA:206443
Wagr Syndrome	Obesity, Short stature, Cryptorchidism	ORPHA:893
Schaaf-Yang Syndrome	Flexion contracture, Short stature, Hypogonadism, Camptodactyly, Cryptorchidism, Obesity, Failure...	OMIM:615547
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Flexion contracture, Short femur, Failure to thrive, Hypoglycemia, Growth delay, Sho...	ORPHA:17
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Lipodystrophy, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Isolated Agammaglobulinemia	Anemia, Cellulitis, Arthritis, Abnormality of neutrophils, Failure to thrive, Thrombocytopenia, A...	ORPHA:229717
Trisomy 5P	Obesity, Short stature	ORPHA:1742
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hyperinsulinemic hypoglycemia	OMIM:602579
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Obesity, Short stature, Puberty and gonadal disorders	ORPHA:464282
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal...	ORPHA:457059
Phosphoglycerate Dehydrogenase Deficiency	Hypsarrhythmia, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Short stature, Glycosuria, Large for gestational age, Rickets, Diabetes mellitus, Hypoglycemia	OMIM:616026
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc...	ORPHA:508
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
African Trypanosomiasis	Impotence, Weight loss, Abnormality of circulating cortisol level, Infertility, Abnormality of th...	ORPHA:3385
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Chung-Jansen Syndrome	Obesity, Cryptorchidism	OMIM:617991
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Isolated Thyroid-Stimulating Hormone Deficiency	Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h...	ORPHA:90674
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Hypogonad...	OMIM:101800
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Pancytopenia, Thrombocytopenia, Hearing impairment, Facial palsy	OMIM:616435
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Attention deficit hyperactivity di...	OMIM:619151
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ...	ORPHA:275555
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:3464
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly, Dysphagia	OMIM:619751
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:616030
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Increased circulating...	OMIM:616050
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Ventricular septal hypertrophy, Elevated circulating creatine ...	ORPHA:370
Erdheim-Chester Disease	Diabetes insipidus, Osteomyelitis, Weight loss, Increased bone mineral density, Osteolysis, Hypog...	ORPHA:35687
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test, Short stature	OMIM:216100
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly	OMIM:613027
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Aromatase Deficiency	Primary amenorrhea, Enlarged polycystic ovaries, Type II diabetes mellitus, Eunuchoid habitus, Ma...	ORPHA:91
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Coronary artery stenosis, Type II diabetes mellitus, Increased LDL choleste...	OMIM:615812
Congenital Rubella Syndrome	Anemia, Sensorineural hearing impairment, Ventricular septal defect, Type I diabetes mellitus, At...	ORPHA:290
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Obesity, Primary amenorrhea	OMIM:600955
Chédiak-Higashi Syndrome	Inability to walk, Pericardial effusion, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abno...	ORPHA:167
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hypothalamic hamartoma, Short stature	OMIM:241800
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ...	ORPHA:280679
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hypertriglyceridemia, Sensorineural hearing impairment, Increased circulating ferritin co...	ORPHA:540
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, 2-3 toe syndactyly, Reduced subcutaneous adipose tissue, Short femur, Hy...	ORPHA:3455
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Turner Syndrome Due To Structural X Chromosome Anomalies	Short 4th metacarpal, Micrognathia, Increased circulating gonadotropin level, Abnormal forearm bo...	ORPHA:99413
Mosaic Monosomy X	Short 4th metacarpal, Micrognathia, Increased circulating gonadotropin level, Abnormal forearm bo...	ORPHA:99228
Monosomy X	Short 4th metacarpal, Micrognathia, Increased circulating gonadotropin level, Abnormal forearm bo...	ORPHA:99226
Turner Syndrome	Short 4th metacarpal, Micrognathia, Increased circulating gonadotropin level, Abnormal forearm bo...	ORPHA:881
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Type II diabetes mellitus, Obesity, Short stature	ORPHA:3191
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Craniosynostosis, Umbilical hernia, Cryptorchidism	ORPHA:171839
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, Wrist flexion contracture, Hip contracture, Hernia, Joint contracture o...	OMIM:193700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity	OMIM:301076
Platelet Signal Processing Defect	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a...	OMIM:173590
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Microtia, Small for gesta...	OMIM:277380
11Q22.2Q22.3 Microdeletion Syndrome	Obesity	ORPHA:444002
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity, Short stature	OMIM:618124
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Increased bone mineral density	ORPHA:36913
Atkin-Flaitz Syndrome	Macroorchidism, Short stature, Obesity, Tall stature	OMIM:300431
Neutral Lipid Storage Disease With Ichthyosis	Small earlobe, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Sensorin...	ORPHA:98907
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ...	OMIM:618849
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,...	OMIM:601596
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia...	ORPHA:158048
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity, Cryptorchidism	ORPHA:464288
Mccune-Albright Syndrome	Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir...	OMIM:174800
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Sensorineural hearing impairment, Inability to walk, EEG abnormality, Failure to thrive, Thromboc...	OMIM:616577
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h...	OMIM:613011
Seckel Syndrome 10	Ventricular hypertrophy, Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes mel...	OMIM:617253
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole...	ORPHA:650
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Multiple joint contractures, Short stature, Small for gestational ...	ORPHA:464306
Gaucher Disease, Type Iii	Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:231000
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Tracheomalacia, Atrial...	OMIM:612561
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Hypogonadism, Cryptorchidism	ORPHA:363741
Familial Renal Glucosuria	Glycosuria, Insulin resistance, Moderate postnatal growth retardation, Hyperglycemia, Abnormal or...	ORPHA:69076
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Osteopetrosis	OMIM:617306
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614897
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hypogonadism, Cryptorchidism	OMIM:601794
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Ataxia, Dysmetria, Hypoglycemia, Thrombocytopenia, Athetosis, Cardiomyopathy	OMIM:617710
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ...	ORPHA:247598
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Osteopetrosis, Intrauterine growth retardation, Short stature	OMIM:618541
Summitt Syndrome	Camptodactyly of finger, Obesity, Craniosynostosis, Tall stature	ORPHA:3210
X-Linked Agammaglobulinemia	Anemia, Sensorineural hearing impairment, Osteomyelitis, Weight loss, Cellulitis, Arthritis, Hypo...	ORPHA:47
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Small for gestational age, Lethargy, Abnormal heart morphology, Leu...	ORPHA:391673
Senior-Loken Syndrome 9	Obesity, Osteopenia, Hypogonadism	OMIM:616629
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Hypothyroidism, Short 5th finger, Small for gestational age, Micrognathia, Clinodact...	ORPHA:397590
Premature Ovarian Failure 10	Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas...	OMIM:612885
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Panhypopitu...	OMIM:618922
Thyrocerebroretinal Syndrome	Thrombocytopenia, Sensorineural hearing impairment, Ataxia	OMIM:274240
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Diabetes mellitus, Abdominal obesity	OMIM:615980
Silver-Russell Syndrome	Hyperhidrosis, Precocious puberty, Short stature, Decreased testicular size, Cachexia, Cryptorchi...	ORPHA:813
Osteopetrosis, Autosomal Recessive 5	Hip subluxation, Short stature, Increased bone mineral density, Micrognathia, Decreased osteoclas...	OMIM:259720
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Tinnitus, Hypercholesterolemia, Dysphagia, Glucose intoleran...	OMIM:606721
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Abnormality of ...	ORPHA:264200
Alg8-Cdg	Anemia, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Camptod...	ORPHA:79325
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Dilated third ventricle	ORPHA:314404
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum, Growth delay, Joint hypermobility	OMIM:617798
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity, Short stature	ORPHA:3077
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short stature, Abnormality of the ovary, Primary amenorrhea, ...	ORPHA:247768
13Q12.3 Microdeletion Syndrome	Short stature, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Cryptorchidism,...	ORPHA:412035
Igg4-Related Thyroid Disease	Hypothyroidism, Anti-thyroid peroxidase antibody positivity, Nodular goiter, Thyroiditis, Thyroto...	ORPHA:64744
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Thyroid Hormone Resistance, Selective Pituitary	Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin...	OMIM:145650
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Acrocraniofacial Dysostosis	Craniosynostosis, Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineur...	OMIM:201050
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Immunodeficiency 46	Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Desmosterolosis	Rhizomelia, Joint contracture of the hand, Micrognathia, Generalized osteosclerosis, Failure to t...	OMIM:602398
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Metacarpal periosteal thickening, Calvarial osteosclerosis, Parathyroid hyperplasia, Achilles ten...	OMIM:617994
Noonan Syndrome 12	Thrombocytopenia, Tetralogy of Fallot, Ventricular septal defect, Lymphopenia	OMIM:618624
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Tapered finger, Micrognathia, Hip dislocation, Hypoglycemia, Delayed epiphys...	OMIM:616007
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Short stature, Truncal obesity	ORPHA:2928
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Chronic neutropenia, Anemia, Increased susceptibility to fractures, Hyperur...	ORPHA:79259
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Ventricular septal defect, Polysplenia, Neonatal hypoglycemia, Joint hypermobility, Failu...	OMIM:619418
Leishmaniasis	Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ...	ORPHA:507
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,...	OMIM:618838
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Short stature	ORPHA:436174
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis	ORPHA:54057
Glycogen Storage Disease Iii	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperl...	OMIM:232400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thrive, Diabetes mellitus, Increased ...	OMIM:613845
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Restrictive cardiomyopathy, Multifocal epileptiform discharges, EEG with ge...	ORPHA:369837
Congenital Myopathy 9A	Obesity, Short stature, Cryptorchidism	OMIM:618822
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ...	OMIM:300845
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	OMIM:610829
Rafiq Syndrome	Obesity, Flexion contracture, Short stature, Truncal obesity	OMIM:614202
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T...	OMIM:226990
Insulin-Like Growth Factor I, Resistance To	Decreased body weight, Short stature, Reduced subcutaneous adipose tissue, Diabetes mellitus, Inc...	OMIM:270450
Maternal Uniparental Disomy Of Chromosome 2	Hypothyroidism, Contractures of the large joints, Decreased response to growth hormone stimulatio...	ORPHA:96179
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Cryptorchidism, Obesity, Intrauterine growth reta...	ORPHA:439822
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Type II diabetes mellitus, Narcolepsy	OMIM:604121
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Perimembranous ventricular septal defect, Camptodactyly, Failure to thrive, Low-set ears,...	OMIM:608104
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Decreased response to growth hormone stimulation test, Decreased body weight, Bilateral cryptorch...	OMIM:618336
Xp21 Deletion Syndrome	Joint laxity, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Osteoporo...	ORPHA:261476
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism	OMIM:615633
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Type I diabetes mellitus, Myelofibrosis, Autoimmune hemolytic anemia, Hemophag...	OMIM:301078
Raine Syndrome	Enamel hypoplasia, Short stature, Increased bone mineral density, Micrognathia, Long hallux, Brac...	OMIM:259775
Pelger-Huet Anomaly	Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Fai...	OMIM:169400
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Lipodystrophy, Failure to thrive, Elevated circulatin...	OMIM:618048
Babesiosis	Leukopenia, Hemolytic anemia, Limitation of joint mobility, Thrombocytopenia, Splenomegaly	ORPHA:108
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase...	OMIM:187900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia, ...	ORPHA:2089
Chylomicron Retention Disease	Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis	ORPHA:71
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal sclerosis, Cra...	OMIM:618476
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Short stature, Decreased testicular size, Delayed puberty, Cryptorchidism, Abdomina...	OMIM:300354
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ...	OMIM:609757
Cohen Syndrome	Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Short sta...	OMIM:216550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Ventral hernia, Macrotia, Cellulitis, Pericardial effusion, Mitral valve p...	ORPHA:536532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Adiposis Dolorosa	Hypothyroidism, Obesity, Autoimmunity, Xerostomia	ORPHA:36397
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Thrombocytopenia, Aplasti...	ORPHA:811
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Short stature, Truncal obesity	ORPHA:85280
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r...	ORPHA:90041
Gaucher Disease Type 3	Mitral valve calcification, Increased susceptibility to fractures, Anemia, Pericardial effusion, ...	ORPHA:77261
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Anti-thyroid peroxidase antibody positivit...	OMIM:615577
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Small for gestational age, Arthrogryposis multip...	OMIM:208085
Systemic Lupus Erythematosus 17	Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Reduced subcutaneous adipose tissue, Micrognathia,...	OMIM:264090
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t...	OMIM:609945
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Wrist flexion contracture, Flexion contracture, Male hypogonadism, Obesity	OMIM:300055
Giant Axonal Neuropathy	Abnormality of the pituitary gland	ORPHA:643
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Small for gestationa...	OMIM:260400
Hypothyroidism Due To Tsh Receptor Mutations	Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:90673
Luscan-Lumish Syndrome	Irregular menstruation, Advanced ossification of carpal bones, Short stature, Overgrowth, Polycys...	OMIM:616831
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase...	OMIM:300946
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Aicardi-Goutieres Syndrome 4	Pancytopenia, Hepatosplenomegaly, Low-set ears, Thrombocytopenia, Splenomegaly	OMIM:610333
Congenital Hypothyroidism	Hypothyroidism, Hypogonadism, Short stature, Anterior hypopituitarism, Abnormality of reproductiv...	ORPHA:442
Carpenter Syndrome	Obesity, Craniosynostosis, Umbilical hernia, Cryptorchidism	ORPHA:65759
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Pituitary Stalk Interruption Syndrome	Hypothyroidism, Diabetes insipidus, Short stature, Ectopic posterior pituitary, Failure to thrive...	ORPHA:95496
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Congenital hypothyroidism, Decreased response to growth hormone stimulation test, Growth delay	OMIM:601427
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ...	ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Arthritis, Type I diabetes mellitus, Autoimmune thrombo...	OMIM:304790
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Arthritis, Pericarditis, Thrombocytopenia	OMIM:152700
Cockayne Syndrome Type 1	Enamel hypoplasia, Foot joint contracture, Macrotia, Abnormality of peripheral nerve conduction, ...	ORPHA:90321
Pituitary Adenoma 2, Growth Hormone-Secreting	Elevated circulating growth hormone concentration, Pituitary adenoma	OMIM:300943
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Failure to thrive in infancy	ORPHA:263501
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia	ORPHA:230
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Inguinal hernia, Hearing impairment...	OMIM:252900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Delayed puberty, Hypopituitarism, Growth delay	OMIM:600462
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Tangier Disease	Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Facial dipleg...	ORPHA:31150
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Thrombocytopenia 6	Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity, Short stature	ORPHA:1035
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Drug-Induced Lupus Erythematosus	Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I...	ORPHA:231111
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Asymmetric septal hypertrophy, Dense calvaria, Hearing impairment, Cardiomegaly, J...	OMIM:252920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Double outlet right ventricle, Ventricular septal defect, Small for gestational age, ...	OMIM:301056
Slc35A1-Cdg	Cellulitis, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia	ORPHA:238459
19P13.12 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Arthrogryposis multiplex congenita, Cryptorchidism, Obesity, ...	ORPHA:254346
Intellectual Disability-Strabismus Syndrome	Hypothyroidism, Hypohidrosis, Congenital finger flexion contractures, Decreased response to growt...	ORPHA:363528
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Short stature, Small for gestational age, Cryptorchidism, Truncal obesity	OMIM:300957
Optic Atrophy 11	Splenomegaly, Macrotia, Hyperactivity, Gait apraxia, Optic atrophy, EEG with focal sharp waves, O...	OMIM:617302
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Isovaleric Acidemia	Leukopenia, Thrombocytopenia, Lethargy, Pancytopenia	OMIM:243500
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ...	OMIM:231200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Decreased response to growth ho...	OMIM:619503
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesi...	ORPHA:284180
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ...	OMIM:614842
Rhabdoid Tumor	Weight loss, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Beta-Thalassemia Major	Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea...	ORPHA:231214
Nephronophthisis 15	Obesity	OMIM:614845
Nelson Syndrome	Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a...	ORPHA:199244
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Hyperactivity	OMIM:612716
Adult-Onset Autosomal Dominant Leukodystrophy	Gait ataxia, Flexion contracture, Sensorineural hearing impairment, Abnormality of somatosensory ...	ORPHA:99027
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Tenorio Syndrome	Joint laxity, Hypoglycemia, Hypoinsulinemia, Osteopenia	OMIM:616260
Gray Platelet Syndrome	Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,...	OMIM:139090
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Ulnar-Mammary Syndrome	Anterior pituitary hypoplasia, Elbow flexion contracture, Obesity, Axillary apocrine gland hypopl...	OMIM:181450
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu...	ORPHA:35858
Dysbetalipoproteinemia	Hypercholesterolemia, Hypertriglyceridemia, Gout, Diabetes mellitus, Increased LDL cholesterol co...	ORPHA:412
Joubert Syndrome 37	Decreased testicular size, Obesity, Short stature, Cryptorchidism	OMIM:619185
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Macrotia, Flexion contracture, Impaired glucose tolerance, Elbow flexion...	OMIM:256040
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni...	ORPHA:99901
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp...	OMIM:605814
Morm Syndrome	Truncal obesity	ORPHA:75858
Gaucher Disease	Increased bone mineral density, Osteolysis, Dysphagia, Aortic valve calcification, Thrombocytopen...	ORPHA:355
Trichothiodystrophy 5, Nonphotosensitive	Decreased testicular size, Panhypopituitarism, Short stature, Intrauterine growth retardation	OMIM:300953
8Q24.3 Microdeletion Syndrome	Short 5th finger, Short femur, Short hallux, Rocker bottom foot, Hip dysplasia, Pes valgus, Conge...	ORPHA:508488
Holocarboxylase Synthetase Deficiency	Weight loss, Ataxia, Hyperammonemia, Thrombocytopenia, Lethargy	ORPHA:79242
Cushing Disease	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Secondary amenorrhea,...	ORPHA:96253
Momo Syndrome	Abnormal bone ossification, Short stature, Large for gestational age, Overgrowth, Tall stature, A...	ORPHA:2563
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ...	OMIM:308240
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Flexion contracture of digit, Hypogonadism, Decreased testicular size, Reduced subcutaneous adipo...	ORPHA:3041
Silver-Russell Syndrome 1	Small for gestational age, Testicular seminoma, Decreased response to growth hormone stimulation ...	OMIM:180860
Microcephalic Primordial Dwarfism, Dauber Type	Primary amenorrhea, Short stature, Severe intrauterine growth retardation, Obesity, Severe postna...	ORPHA:319675
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph...	ORPHA:98849
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Patent foramen ovale, Flexion contracture, Gluco...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Bone Marrow Failure Syndrome 4	Low-set ears, Anemia, Thrombocytopenia, Leukopenia	OMIM:618116
Pancreatic And Cerebellar Agenesis	Flexion contracture, Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Diabet...	OMIM:609069
Microtriplication 11Q24.1	Obesity, Short stature	ORPHA:289522
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Flexion contracture	OMIM:612952
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Reduced bone mineral density, Prim...	ORPHA:90796
48,Xxxy Syndrome	Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Ing...	ORPHA:96263
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Neonatal...	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Neonatal...	ORPHA:529799
Megalencephaly	Macroorchidism, Truncal obesity	ORPHA:2477
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Wilson Disease	Anemia, Weight loss, Arthritis, Failure to thrive, Difficulty walking, Thrombocytopenia, Patholog...	ORPHA:905
Methylmalonic Aciduria, Cblb Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,...	OMIM:251110
Tatton-Brown-Rahman Syndrome	Obesity, Neuroendocrine neoplasm, Cryptorchidism, Proportionate short stature, Umbilical hernia, ...	ORPHA:404443
Mevalonic Aciduria	Failure to thrive in infancy, Anemia, Ataxia, Hepatosplenomegaly, Elevated circulating creatine k...	OMIM:610377
Multiple Endocrine Neoplasia, Type I	Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso...	OMIM:131100
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, ...	ORPHA:2839
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Primary Myelofibrosis	Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,...	ORPHA:824
Acrodysostosis With Multiple Hormone Resistance	Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calcitonin, Diabete...	ORPHA:280651
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Conductive hearing impairment, Microtia, Camptodactyly, Left ventricular hypertrophy, Cho...	OMIM:611209
Borjeson-Forssman-Lehmann Syndrome	Short stature, Hypogonadism, Decreased testicular size, Camptodactyly of toe, Cryptorchidism, Tru...	ORPHA:127
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Dilated cardiomyopathy, Pancytopenia, Failure to thrive, Thrombocytopenia, Aplastic a...	OMIM:613989
Fetal Gaucher Disease	Splenomegaly, Flexion contracture, Pancytopenia, Abnormality of the spleen, Low-set, posteriorly ...	ORPHA:85212
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Decreased response to growth hormone stimulation test, Wide anterior fontanel, ...	OMIM:601853
Trichothiodystrophy	Enamel hypoplasia, Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Incre...	ORPHA:33364
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Ataxia, Failure to thrive, Prolonged brainstem auditory evoked potentials, Joint c...	OMIM:616881
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Hyperhidrosis, Hypogonadism, Short stature, Decreased testicular size, C...	ORPHA:85293
Transaldolase Deficiency	Patent foramen ovale, Anemia, Ventricular septal defect, Small for gestational age, Pancytopenia,...	OMIM:606003
Glucocorticoid Resistance, Generalized	Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A...	OMIM:615962
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Zollinger-Ellison Syndrome	Multiple lipomas, Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Inc...	ORPHA:913
Braddock-Carey Syndrome 1	Enamel hypoplasia, Macrotia, Ventricular septal defect, Aortic valve prolapse, Camptodactyly, Thr...	OMIM:619980
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Anhidrosis, Delayed puberty, Obesity, Craniosynostosis, Abnormal dental enamel mor...	ORPHA:251004
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Hypophosphatemic Rickets	Bowing of the long bones, Precocious puberty, Hyperthyroidism, Osteomalacia, Enthesitis, Abnormal...	ORPHA:437
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia	OMIM:619260
Mirage Syndrome	Leukopenia, Anemia, Radial club hand, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoglyce...	OMIM:617053
Bardet-Biedl Syndrome	Short stature, Hypogonadism, Hypoplasia of the ovary, Cryptorchidism, Obesity	ORPHA:110
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Micrognathia, Clinodactyly of the 5th finger, Pes planus, Short femur, Joint hyper...	OMIM:300990
Carpenter Syndrome 1	Sagittal craniosynostosis, Precocious puberty, Short stature, Joint contracture of the hand, Coro...	OMIM:201000
Solitary Median Maxillary Central Incisor	Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Short stature	OMIM:147250
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Hypothyroidism, Congenital, Nongoitrous, 5	Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula...	OMIM:225250
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short stature, Obesity, Tall stature	OMIM:618089
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Short stature	OMIM:259730
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism...	OMIM:619761
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Immunodeficiency 61	Obesity	OMIM:300310
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Multiple Endocrine Neoplasia, Type Iv	Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum...	OMIM:610755
Pediatric-Onset Graves Disease	Hyperactivity, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Polyphagi...	ORPHA:525731
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Charcot-Marie-Tooth Disease Type 1F	Gait ataxia, Sensorineural hearing impairment, Inability to walk, Absent brainstem auditory respo...	ORPHA:101085
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,...	OMIM:251100
Alg12-Cdg	Patent foramen ovale, Sensorineural hearing impairment, Abnormal bone ossification, B lymphocytop...	ORPHA:79324
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Truncal ataxia, Limb ataxia, Joint hypermobility, Persistence of hemoglobin F, Broad-based gait, ...	OMIM:617101
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia, Dysphagia	OMIM:615750
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Ventricular septal defect, Optic atrophy, Pancytopenia, Atrial septal defect, ...	OMIM:614576
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Intrauterine growth retard...	ORPHA:75389
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T...	OMIM:300835
Ovarian Dysgenesis 3	Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo...	OMIM:614324
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Abnormal heart morph...	ORPHA:398124
Cerebrotendinous Xanthomatosis	Increased susceptibility to fractures, Abnormality of somatosensory evoked potentials, Optic atro...	ORPHA:909
Baralle-Macken Syndrome	Obesity	OMIM:619255
Spondyloenchondrodysplasia	Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Juvenile rh...	ORPHA:1855
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism	OMIM:202150
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia, Athetosis	ORPHA:621
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Splenomegaly, Hyperlipidemia, Reduced bone mineral density	ORPHA:1414
Desbuquois Dysplasia 1	Advanced ossification of carpal bones, Severe short stature, Disproportionate short-limb short st...	OMIM:251450
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Small for gestational age, Lymphopenia, Pancytopenia, Osteope...	OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Ataxia, Osteoporosis, Thrombocytopenia, Aplastic anemia, Hearing impair...	OMIM:613990
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:79323
Congenital Enterovirus Infection	Leukopenia, Anemia, Myocarditis, Abnormal macrophage morphology, Pericardial effusion, Hyperammon...	ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Small for gestational age, Elevated circulating ...	OMIM:618775
Deafness-Lymphedema-Leukemia Syndrome	Sensorineural hearing impairment, Weight loss, Abnormal neutrophil count, Leukocytosis, Myeloprol...	ORPHA:3226
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Hernia, Asymmetric septal hypertrophy, Dense calvaria, Hearing impairment, Dysphag...	OMIM:252930
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Growth delay, Intrauterine growth retardation	OMIM:617784
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Smith-Kingsmore Syndrome	Thrombocytopenia, Large for gestational age, Umbilical hernia, Hypoglycemia	OMIM:616638
Camurati-Engelmann Disease	Coxa valga, Cachexia, Cortical thickening of long bone diaphyses, Slender build, Genu valgum, Abn...	ORPHA:1328
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Rhizomelia	OMIM:618821
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Decrease...	OMIM:610978
Wilson Disease	Anemia, Chondrocalcinosis, Hemolytic anemia, Osteomalacia, Glycosuria, Decreased circulating ceru...	OMIM:277900
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Stt3B-Cdg	Failure to thrive, Thrombocytopenia, Optic atrophy	ORPHA:370924
Autoimmune Polyendocrinopathy Type 3	Thymoma, Autoimmune hypoparathyroidism, Rheumatoid arthritis, Anterior pituitary dysgenesis, Auto...	ORPHA:227982
Halothane Hepatitis	Obesity	OMIM:234350
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Myocardial fibrosis, Thrombocytopenia, Increased circulating ferritin concentration, Hepatospleno...	ORPHA:210136
Autoimmune Polyendocrinopathy Type 4	Thymoma, Rheumatoid arthritis, Anterior pituitary dysgenesis, Autoimmunity, Type I diabetes melli...	ORPHA:227990
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Failure to thrive, Low-s...	ORPHA:98791
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Decreased CD4:CD8 ratio, Hemolytic anemia, Small for gestational a...	OMIM:619573
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:275200
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Flexion contracture, Optic atrophy, Inability to walk, Atrial septal defect, ...	OMIM:617303
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia, Optic atrophy	OMIM:615597
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Hypothyroidism, Bilateral camptodactyly, Decreased response to growth hormone stimulation test, S...	OMIM:619234
Gaucher Disease, Perinatal Lethal	Splenomegaly, Anemia, Cardiomegaly, Decreased body weight, Akinesia, Microtia, Hepatosplenomegaly...	OMIM:608013
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Splenomegaly, Anemia, Hypoplasia of the thymus, Sensorineural hearing impairment, Pul...	OMIM:612541
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Spastic Paraplegia 11, Autosomal Recessive	Obesity	OMIM:604360
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Cardiofaciocutaneous Syndrome 4	Hyperhidrosis, Decreased response to growth hormone stimulation test, Short stature	OMIM:615280
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elevated circulating C-rea...	OMIM:619644
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Bilateral cryptorchidism, Decreased response to growth hormone stimulation tes...	ORPHA:485405
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline	OMIM:603471
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Bilateral cryptorchidism, Supernumerary nipple, Failure to thrive,...	ORPHA:466791
Lead Poisoning	Abnormal T cell morphology, Anemia, Small for gestational age, Abnormality of the autonomic nervo...	ORPHA:330015
Hb Bart'S Hydrops Fetalis	Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Narcolepsy 3	Narcolepsy	OMIM:609039
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Hyperactivity, Sensorineural hearing impairment, Lymphopenia, Autoimm...	ORPHA:760
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Craniosynostosis, Short stature	OMIM:619056
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Sagittal craniosynostosis, Elevated circulating thyroid-...	OMIM:610199
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Ataxia, Abnormality of neutrophils, Thrombo...	ORPHA:381
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl...	OMIM:127550
Fanconi Anemia, Complementation Group I	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Sho...	OMIM:609053
Braddock-Carey Syndrome 2	Thrombocytopenia, Hearing impairment, Atresia of the external auditory canal	OMIM:619981
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot...	ORPHA:91547
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Sensorineural hearing impairment, Elbow flexion contracture, Contracture of the proximal interpha...	OMIM:612394
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Ataxia, Dysmetria, Difficulty walking, Dysphagia, Low-set ears, Thrombocyt...	ORPHA:572798
Bardet-Biedl Syndrome 9	Irregular menstruation, Obesity, Truncal obesity	OMIM:615986
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight	OMIM:614651
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:324737
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti...	OMIM:557000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia, Hyperactivity	OMIM:618314
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Down Syndrome	Decreased fertility, Hypothyroidism, Type II diabetes mellitus, Obesity, Umbilical hernia	ORPHA:870
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Laurence-Moon Syndrome	Obesity, Short stature	OMIM:245800
Cockayne Syndrome B	Sensorineural hearing impairment, Optic atrophy, Small for gestational age, Abnormal auditory evo...	OMIM:133540
Narcolepsy 1	Narcolepsy	OMIM:161400
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Failure to thriv...	OMIM:619239
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat...	OMIM:276820
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Adrenal h...	OMIM:220210
Adult Krabbe Disease	EEG abnormality, Gait disturbance, Ataxia, Prolonged brainstem auditory evoked potentials, Broad-...	ORPHA:206448
Chediak-Higashi Syndrome	Leukopenia, Anemia, Gait disturbance, Ataxia, Giant neutrophil granules, Decreased nerve conducti...	OMIM:214500
Bone Marrow Failure Syndrome 3	Enamel hypoplasia, Acute myeloid leukemia, Hyperactivity, Hernia, Pancytopenia, Joint hypermobili...	OMIM:617052
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Microtia, Small...	ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Obesity	OMIM:617296
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Mogs-Cdg	Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri...	ORPHA:79330
Chilton-Okur-Chung Neurodevelopmental Syndrome	Anterior pituitary hypoplasia, Short stature, Aplasia of the right hemidiaphragm, Cryptorchidism,...	OMIM:619841
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Short stature, Bilateral cryptorchidism, Azoospermia, Decreased serum testosteron...	ORPHA:1772
Castleman Disease	Anemia, Restrictive cardiomyopathy, Weight loss, Myelofibrosis, Decreased mean corpuscular volume...	ORPHA:160
Hyperlipoproteinemia, Type Id	Decreased LDL cholesterol concentration, Failure to thrive, Hyperlipoproteinemia, Decreased HDL c...	OMIM:615947
Peripartum Cardiomyopathy	Diabetes mellitus, Obesity, Autoimmunity, Abnormality of thyroid physiology	ORPHA:563
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an...	ORPHA:79277
Mosaic Variegated Aneuploidy Syndrome 2	Hypothyroidism, Decreased response to growth hormone stimulation test, Rhizomelia, Short stature,...	OMIM:614114
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do...	ORPHA:99889
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Thrombocytopenia, Dilated cardiomyopathy, Hypoglycemia	OMIM:611126
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia, Limited pronation/supination ...	OMIM:605432
Carney Complex	Precocious puberty, Neoplasm of the pancreas, Dorsocervical fat pad, Oligospermia, Follicular thy...	ORPHA:1359
Myh9-Related Disease	Sensorineural hearing impairment, Giant platelets, Congenital thrombocytopenia, Neutrophil inclus...	ORPHA:182050
6Q16 Microdeletion Syndrome	Obesity	ORPHA:171829
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ...	ORPHA:2980
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Optic atrophy, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circul...	ORPHA:79282
Pseudo-Torch Syndrome 3	Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thro...	OMIM:618886
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Abnormal distal phalanx morpholo...	ORPHA:2636
8P23.1 Microdeletion Syndrome	Short stature, Weight loss, Congenital diaphragmatic hernia, Growth delay, Cryptorchidism, Obesit...	ORPHA:251071
Addison Disease	Thymoma, Generalized bone demineralization, Decreased circulating aldosterone level, Weight loss,...	ORPHA:85138
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity	ORPHA:411515
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity, Cryptorchidism	OMIM:194072
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Large for gestational age, Failure to thrive, Thrombocytopenia, Neutropenia, Umbilical he...	OMIM:614520
Bardet-Biedl Syndrome 17	Obesity, Hypogonadism	OMIM:615994
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Flexion contracture, Choreoathetosis, Neonatal hypoglycemia, Ataxia, Thrombocytopenia...	OMIM:616271
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:235400
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Weight loss, Alcoholism, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutro...	ORPHA:520
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	EEG with frontal sharp slow waves, Sensorineural hearing impairment, EEG abnormality, Inability t...	ORPHA:457351
Vexas Syndrome	Sensorineural hearing impairment, Arthritis, Thrombocytopenia, Elevated circulating C-reactive pr...	OMIM:301054
Somatomammotropinoma	Hyperhidrosis, Increased circulating prolactin concentration, Impotence, Anterior hypopituitarism...	ORPHA:314769
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperuricemia, Hyperlipidemia	ORPHA:364
Familial Chylomicronemia Syndrome	Decreased body weight, Hepatosplenomegaly, Failure to thrive, Diabetes mellitus, Hyperlipidemia, ...	ORPHA:444490
Cockayne Syndrome A	Enamel hypoplasia, Sensorineural hearing impairment, Hip contracture, Optic atrophy, Abnormal aud...	OMIM:216400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Anemia, Weight loss, Hypersplenism, Cachexia, Hyperkalemia, Steatorrhea, He...	ORPHA:275761
Macrocephaly/Autism Syndrome	Overgrowth, Large for gestational age, Obesity, Hydrocele testis	OMIM:605309
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Arthritis, Type I diabetes mellitus, Pancytopenia, Autoim...	OMIM:614700
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa...	OMIM:617443
Dengue Fever	Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia	ORPHA:99828
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombocytopenia, Hyponatremia	ORPHA:449285
Femoral-Facial Syndrome	Hypoplastic acetabulae, Preaxial hand polydactyly, Limited elbow movement, Humeroradial synostosi...	OMIM:134780
Shox-Related Short Stature	Obesity, Short stature	ORPHA:314795
Ulnar-Mammary Syndrome	Decreased fertility, Camptodactyly of finger, Short stature, Hypoplastic nipples, Breast aplasia,...	ORPHA:3138
Kleefstra Syndrome Due To 9Q34 Microdeletion	Abnormal testis morphology, Failure to thrive, Inguinal hernia, Growth delay, Cryptorchidism, Obe...	ORPHA:96147
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Pathologic fracture...	OMIM:230800
Radio-Tartaglia Syndrome	Precocious puberty, Obesity	OMIM:619312
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Increased susceptibility to fractures, Anemia, Optic atrophy, Ataxia, Osteopenia, Thrombocytopeni...	OMIM:612199
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, High-frequency hear...	OMIM:619743
Chromosome 2Q37 Deletion Syndrome	Obesity, Short stature	OMIM:600430
Apolipoprotein C-Ii Deficiency	Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat...	OMIM:207750
2Q37 Microdeletion Syndrome	Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Obesity, Umbilical hernia	ORPHA:1001
Zika Virus Disease	Arthritis, Thrombocytopenia, Abnormal optic disc morphology, Transient hearing impairment	ORPHA:448237
Distal Monosomy 12Q	Wide anterior fontanel, Short stature, Elbow flexion contracture, Pituitary adenoma, Maturity-ons...	ORPHA:96149
Takenouchi-Kosaki Syndrome	Sensorineural hearing impairment, Optic atrophy, Abnormal cardiac septum morphology, Pulmonic ste...	OMIM:616737
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Large for gestational age, Atrial septal defect, Hy...	OMIM:610733
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d...	OMIM:601399
Primary Lipodystrophy	Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Hyperlipidemia, Lipoatrophy, Spleno...	ORPHA:90970
Microform Holoprosencephaly	Hypothyroidism, Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retarda...	ORPHA:280200
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Thrombocytopenia, Sensorineural hearing impairment, Absent circulating B cells	OMIM:619693
Schinzel-Giedion Midface Retraction Syndrome	Short sternum, Wide distal femoral metaphysis, Short 1st metacarpal, Talipes equinovarus, Increas...	OMIM:269150
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hyperhidrosis, Precocious puberty, Decreased response to growth hormone stimulation test, Small f...	ORPHA:96182
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Leukemia, Small for gestational age, Pancytopenia, Abnormal heart morp...	OMIM:600901
Tularemia	Anemia, Thrombocytopenia, Leukocytosis	ORPHA:3392
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Aplasia/hypoplasia...	ORPHA:2769
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:90060
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Failure to thrive,...	OMIM:603554
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity	OMIM:613192
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen...	ORPHA:508542
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Precocious puberty, Type I diabetes mellitus, Proportionate short stat...	OMIM:619269
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Short stature	OMIM:615630
Immunodeficiency 22	Anemia, Pericarditis, Failure to thrive, Panniculitis, Decreased proportion of CD4-positive helpe...	OMIM:615758
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Hyperactivity, Microtia, Camptodactyly, Atrial septal defect, Low-set ears, Thrombocytope...	ORPHA:261323
Combined Oxidative Phosphorylation Deficiency 14	Anemia, EEG abnormality, Elevated hepatic iron concentration, Thrombocytopenia, Hearing impairment	OMIM:614946
Immunodeficiency 10	Amelogenesis imperfecta, Thrombocytopenia, Autoimmune hemolytic anemia	OMIM:612783
Pseudo-Torch Syndrome 1	Patent foramen ovale, Failure to thrive, Low-set ears, Thrombocytopenia, Splenomegaly, Umbilical ...	OMIM:251290
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Growth delay	OMIM:612301
Pearson Syndrome	Reticulocytosis, Dysphagia, Thrombocytopenia, Hearing impairment, Splenomegaly, Hyperalaninemia, ...	ORPHA:699
Schimke Immuno-Osseous Dysplasia	Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Hyperlipidemia, Decreased prop...	ORPHA:1830
Trisomy 10P	Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e...	ORPHA:171929
Fanconi Anemia, Complementation Group C	Anemia, Flexion contracture, Ventricular septal defect, Reticulocytopenia, Leukemia, Small for ge...	OMIM:227645
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F, Overweight, Umbilic...	OMIM:619769
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612926
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Obesity, Overweight	ORPHA:2822
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Short stature, Diabetes mellitus, Disproportionate short-limb short stature, Ingu...	OMIM:616541
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Abdominal obesity, Disproportionate tall stature, Cryptorchidism	OMIM:301039
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Failure to thrive,...	ORPHA:401973
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Flexion contracture, Hernia, Patent foramen ovale, Optic atrophy, Inability t...	ORPHA:505248
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, Myocarditis, Hypertriglyceridemia, T l...	ORPHA:2442
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Leukemia, Small for gestational age, Pancytopenia, Abnormal heart morp...	OMIM:227650
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Optic nerve hypoplasia, Dysphagia, Increased m...	ORPHA:261250
Lysinuric Protein Intolerance	Leukopenia, Anemia, Recurrent fractures, Osteoporosis, Failure to thrive, Increased circulating f...	OMIM:222700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612924
Hepatoportal Sclerosis	Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi...	ORPHA:64743
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Low Phospholipid-Associated Cholelithiasis	Pancreatitis, Diabetes mellitus, Overweight, Obesity, Cholelithiasis	ORPHA:69663
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Macrotia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hy...	OMIM:277400
Glycogen Storage Disease Ia	Short stature, Gout, Delayed puberty, Hypoglycemia, Growth delay, Fasting hypoglycemia, Osteoporosis	OMIM:232200
Webb-Dattani Syndrome	Diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypothyroidi...	OMIM:615926
Bacterial Toxic-Shock Syndrome	Septic arthritis, Osteomyelitis, Cellulitis, Arthritis, Fasciitis, Increased circulating metamyel...	ORPHA:36234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal hyperplasia, Fail...	ORPHA:90790
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618430
Hoyeraal-Hreidarsson Syndrome	Anemia, Ataxia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612925
Duplication Of The Pituitary Gland	Abnormality of the pituitary gland, Decreased body weight, Short stature, Abnormal hypothalamus m...	ORPHA:314621
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Abnormal dental enamel morphology	ORPHA:2180
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly	OMIM:150550
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Hyperbilirubinemia, Osteolysis involving bones of the upper limbs, Hypertrophic ...	ORPHA:464321
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Short stature, Delayed puberty, Growth del...	OMIM:615866
Shigellosis	Arthritis, Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leu...	ORPHA:810
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Joint contracture of the hand, Corneal scarring, Osteolysis, Osteopenia, Atypic...	OMIM:263700
Farber Disease	Anemia, Flexion contracture, Arthritis, Hepatosplenomegaly, Failure to thrive, Thrombocytopenia, ...	ORPHA:333
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Bloom Syndrome	Small for gestational age, Premature ovarian insufficiency, Azoospermia, Adipose tissue loss, Dia...	ORPHA:125
Kaposiform Lymphangiomatosis	Anemia, Pericardial effusion, Abnormal spleen morphology, Hepatosplenomegaly, Osteolysis, Thrombo...	ORPHA:464329
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Obesity, Di...	ORPHA:98908
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb...	OMIM:185070
Tick-Borne Encephalitis	Leukopenia, Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous sy...	ORPHA:297
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Precocious puberty, Type II diabetes mellitus, Disproportionate short stature,...	OMIM:210720
Dyskeratosis Congenita, Autosomal Recessive 1	Thrombocytopenia, Aplastic anemia, Osteoporosis, Pancytopenia	OMIM:224230
Methanol Poisoning	Type II diabetes mellitus, Alcoholism, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo...	OMIM:251880
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Truncal obesity	ORPHA:3224
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Lipoatrophy, Hypercholesterolemia, Aortic valve stenosis, Hypertriglycer...	ORPHA:363618
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Calcinosis, Insulin resistance, Osteolysis, Osteolytic...	ORPHA:90154
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity	OMIM:610543
Acromegaly	Hyperhidrosis, Impotence, Anterior hypopituitarism, Diabetes mellitus, Pituitary prolactin cell a...	ORPHA:963
Williams Syndrome	Hypothyroidism, Precocious puberty, Hallux valgus, Patellar dislocation, Increased bone mineral d...	ORPHA:904
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Primary Hyperoxaluria	Failure to thrive, Recurrent fractures, Generalized osteosclerosis	ORPHA:416
Adams-Oliver Syndrome	Leukopenia, EEG abnormality, Failure to thrive, Abnormal pulmonary valve morphology, Thrombocytop...	ORPHA:974
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Acroosteolysis of distal phalanges (feet), Insulin resistance, Limitation of...	ORPHA:90153
Diarrhea 10, Protein-Losing Enteropathy Type	Pericardial effusion, Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemia, Hypomagnese...	OMIM:618183
Lig4 Syndrome	Failure to thrive, Thrombocytopenia, Pancytopenia	OMIM:606593
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Arthritis, Thrombocytopenia,...	ORPHA:464343
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage	OMIM:601709
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Seve...	ORPHA:423479
Isolated Biliary Atresia	Hypothyroidism, Atretic gallbladder, Small for gestational age, Hypopituitarism, Failure to thriv...	ORPHA:30391
Cohen Syndrome	Short stature, Delayed puberty, Cryptorchidism, Obesity, Failure to thrive in infancy, Intrauteri...	ORPHA:193
Frontorhiny	Camptodactyly of finger, Diabetes insipidus, Hypopituitarism, Pericallosal lipoma	ORPHA:391474
Hyperlipoproteinemia, Type I	Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating...	OMIM:238600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac...	OMIM:609136
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Macrotia, Conductive hearing impairment, Cranial nerve compression, Optic atr...	ORPHA:2785
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Glycosuria, Unconjugated hyperbi...	ORPHA:447
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hypopituitarism	ORPHA:90065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Thrombocytopenia, Dysphagia, Unsteady gait, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Pseudo-Torch Syndrome 2	Thrombocytopenia, Lethargy, Secundum atrial septal defect	OMIM:617397
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Secondary amenorrhea, Pineal cyst, Truncal...	ORPHA:529962
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Dysphagia, Thrombocytopenia, Lethargy	ORPHA:319218
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Diabetes mellitus, Truncal obe...	OMIM:209900
Infantile Krabbe Disease	Optic atrophy, Cachexia, Failure to thrive, Decreased nerve conduction velocity, Prolonged brains...	ORPHA:206436
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:274150
Griscelli Syndrome Type 1	Ataxia, Hyperlipidemia	ORPHA:79476
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Hermansky-Pudlak Syndrome 9	Leukopenia, Thrombocytopenia, Abnormal platelet aggregation	OMIM:614171
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Osteogenesis Imperfecta	Flexion contracture, Dysphagia, Thrombocytopenia, Hearing impairment, Abnormal dental enamel morp...	ORPHA:666
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Thrombocytopenia, Leukocytosis, Hyponatremia	ORPHA:83601
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity, Delayed ossification of carpal bones, Short stature	OMIM:618395
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Abnormality of the pineal gland	ORPHA:369950
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Thrombocytopenia, Splen...	ORPHA:1304
Good Syndrome	Anemia, Diabetes mellitus, Dysphagia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Kleefstra Syndrome	Hernia, Short stature, Supernumerary nipple, Cryptorchidism, Obesity	ORPHA:261494
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Prolidase Deficiency	Failure to thrive, Thrombocytopenia, Splenomegaly, Anemia	OMIM:170100
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Leukemia, Small for gestational age, Pancytopenia, Attention deficit h...	OMIM:227646
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Sclerotic scapulae, Abnorm...	OMIM:269500
Diamond-Blackfan Anemia 21	Anemia, Secundum atrial septal defect, Erythroid hypoplasia, Low-set ears, Thrombocytopenia, Obes...	OMIM:620072
Hereditary Folate Malabsorption	Megaloblastic anemia, Pancytopenia, Failure to thrive, Eosinophilia, Thrombocytopenia	ORPHA:90045
Pediatric Systemic Lupus Erythematosus	Leukopenia, Pericardial effusion, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thro...	ORPHA:93552
Biliary, Renal, Neurologic, And Skeletal Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Failure to thrive, Inguinal her...	OMIM:619534
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Short stature, Inguinal hernia, Cryptorchi...	OMIM:601808
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Decreas...	OMIM:146510
Achondroplasia	Rhizomelia, Disproportionate short stature, Obesity, Wide anterior fontanel	ORPHA:15
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Obesity	OMIM:615418
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Short stature, Failure to thrive, Cryptorc...	OMIM:603467
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Growth delay, Abnormal metaphysis morphology, Abno...	ORPHA:667
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Hypocalcemia, Hyp...	ORPHA:94093
Niemann-Pick Disease Type C	Progressive gait ataxia, Gait disturbance, Ataxia, Hepatosplenomegaly, Narcolepsy, Hearing impair...	ORPHA:646
Kleefstra Syndrome 1	Obesity, Cryptorchidism	OMIM:610253
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Arthritis, Abnormal platelet function, Abnorm...	ORPHA:906
Cyclic Neutropenia	Cellulitis, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Immunodeficiency 47	Leukopenia, Sensorineural hearing impairment, Normocytic anemia, Joint hypermobility, Decreased c...	OMIM:300972
White-Sutton Syndrome	Short stature, Failure to thrive, Congenital diaphragmatic hernia, Obesity, Intrauterine growth r...	OMIM:616364
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Small for gestational age, Failure to thri...	OMIM:616835
Hepatocellular Carcinoma	Anemia, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hy...	ORPHA:88673
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage	OMIM:277480
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Abnormal cardiac septum morphology, Fused cervical vertebrae, L...	ORPHA:3320
Familial Multiple Lipomatosis	Increased adipose tissue, Insulin resistance, Lipodystrophy, Hyperlipidemia, Abnormal tricuspid v...	ORPHA:199276
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Obesity	ORPHA:163681
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Short stature	OMIM:618443
Idiopathic Hypereosinophilic Syndrome	Anemia, Dysphagia, Arthritis, Neutrophilia, Dilated cardiomyopathy, Myelofibrosis, Hepatosplenome...	ORPHA:3260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Decreased response to growth hormone stimulation test, Short stature, Prostatitis	OMIM:307200
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fis...	OMIM:614294
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:218700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ...	ORPHA:79124
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p...	ORPHA:273
Ivic Syndrome	Synostosis of carpal bones, Radioulnar synostosis, Joint stiffness, Leukocytosis, Thrombocytopeni...	ORPHA:2307
Angelman Syndrome	Precocious puberty in females, Obesity, Delayed menarche	ORPHA:72
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Decreased body weight, Overweight, Amelogenesis imperfecta, Obesity, Intrauter...	OMIM:619229
Holocarboxylase Synthetase Deficiency	Lethargy, Thrombocytopenia, Hyperammonemia	OMIM:253270
Man1B1-Cdg	Truncal obesity	ORPHA:397941
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Rhizomelia, Short stature, Failure to thri...	ORPHA:319182
Avian Influenza	Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:454836
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Q Fever	Endocarditis, Anemia, Osteomyelitis, Weight loss, Pericardial effusion, Abnormal heart valve morp...	ORPHA:781
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Gout, Hypoglycemia, Hyperlipidemia, Xanthelasma, Neutropenia, Osteop...	OMIM:232220
Congenital-Onset Steinert Myotonic Dystrophy	Obesity, Decreased body weight	ORPHA:589821
Dyskeratosis Congenita	Anemia, Recurrent fractures, Coarse metaphyseal trabecularization, Abnormality of neutrophils, Os...	ORPHA:1775
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly	ORPHA:79477
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hypocalcification of dental enamel, Amelogenesis imperfecta, Thrombocytopenia, ...	ORPHA:169090
Desbuquois Dysplasia 2	Advanced ossification of carpal bones, Severe short stature, Truncal obesity, Intrauterine growth...	OMIM:615777
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Patent foramen ovale, Anemia, Microtia, Lymphopenia, Atrial septal defect, Severe B lymphocytopen...	OMIM:620005
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly, Inability to walk, Cardiomyopathy	OMIM:225750
Distal 16P11.2 Microdeletion Syndrome	Obesity	ORPHA:261222
22Q11.2 Deletion Syndrome	Conductive hearing impairment, Hypoplasia of the thymus, Truncus arteriosus, Optic atrophy, Throm...	ORPHA:567
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp...	OMIM:608233
Oculocerebrorenal Syndrome Of Lowe	EEG abnormality, Hypercholesterolemia, Hyponatremia, Thrombocytopenia, Abnormal dental enamel mor...	ORPHA:534
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Short stature, Pineal cyst, Failure to thr...	OMIM:615873
Thyrotoxic Periodic Paralysis	Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w...	ORPHA:79102
Dubowitz Syndrome	Abnormal antihelix morphology, Anemia, Acute lymphoblastic leukemia, Abnormality of neutrophils, ...	ORPHA:235
Pmm2-Cdg	Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti...	ORPHA:79318
Sepsis In Premature Infants	Anemia, Decreased body weight, Small for gestational age, Elevated circulating C-reactive protein...	ORPHA:90051
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Craniosynostosis, Congenital diaphragmatic hernia	ORPHA:261197
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short stature, Hashimoto thyroiditis, Cont...	OMIM:618223
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Failure to thrive, Low-set ears, Thrombocytopenia, Neutropenia	OMIM:617941
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Optic atrophy, Hip osteoarthritis, Papilledema, Splenomegaly, Flex...	ORPHA:580
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased body weight, EEG abnormality, Decreased hemoglobin concentration, Attention deficit hyp...	OMIM:619005
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Lujo Hemorrhagic Fever	Leukopenia, Stiff neck, Lymphopenia, Elevated circulating C-reactive protein concentration, Leuko...	ORPHA:319213
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Camptodactyly of finger, Decreased response to growth hormone stimulation ...	OMIM:602782
Eec Syndrome	Hypohidrosis, Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Sh...	ORPHA:1896
7Q11.23 Microduplication Syndrome	Short stature, Inguinal hernia, Congenital diaphragmatic hernia, Growth delay, Cryptorchidism, Ob...	ORPHA:96121
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Flexion contracture, Truncal ataxia, Ataxia, Hearing impairment, Limb joint contracture, Truncal ...	OMIM:301072
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Short stature, Large for gestational age, ...	OMIM:213980
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Thrombocytopenia, Low-set ears, Aplastic anemia, Overfolded helix	OMIM:300514
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Sensorineural hearing impairment, Optic atrophy, Aganglionic megacol...	ORPHA:847
Bardet-Biedl Syndrome 12	Obesity, Hypogonadism	OMIM:615989
Chops Syndrome	Obesity, Short stature, Cryptorchidism	OMIM:616368
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Sensorineural hearing impairment, Ventricular septal defect, Reduced alpha/beta synthesis ratio, ...	OMIM:301040
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Obesity, Pancreatitis	OMIM:619471
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Ventricular septal defect, Type I diabetes mellitus, Inguinal hernia, Osteoporosis, Failu...	OMIM:619525
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Obesity, Hip contracture, Short stature	OMIM:618493
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Monosomy 13Q34	Metrorrhagia, Obesity, Growth delay	ORPHA:96168
Congenital Analbuminemia	Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem...	ORPHA:86816
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Precocious puberty, Intrauterine growth retardation, Truncal obesity	ORPHA:2637
Wagro Syndrome	Decreased testicular size, Obesity	OMIM:612469
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypogonadism, Diabetes mellitus, Osteopenia, Cryptorchidism, Obesity	OMIM:614231
Thymoma	Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu...	ORPHA:99867
Marburg Hemorrhagic Fever	Leukopenia, Arthritis, Hypokalemia, Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulat...	ORPHA:99826
Primary Fanconi Renotubular Syndrome	Increased susceptibility to fractures, Weight loss, Osteomalacia, Glycosuria, Hypoglycemia, Hypop...	ORPHA:3337
Toxic Epidermal Necrolysis	Anemia, Weight loss, Polydipsia, Dysphagia, Thrombocytopenia, Neutropenia, Abnormal myocardium mo...	ORPHA:537
Fanconi Anemia	Leukopenia, Anemia, Abnormal cardiac septum morphology, Weight loss, Pyridoxine-responsive sidero...	ORPHA:84
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Broad foot, Humeroradial synostosis, Adrenal insufficiency, Decreased circulating renin level, De...	OMIM:201750
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Holoprosencephaly	Diabetes insipidus, Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus, Congenital d...	ORPHA:2162
Hermansky-Pudlak Syndrome 5	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules	OMIM:614074
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia, Pathologic fracture	OMIM:112200
Gaucher Disease, Type Ii	Anemia, Failure to thrive, Dysphagia, Thrombocytopenia, Splenomegaly	OMIM:230900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia	OMIM:613987
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Tbck-Related Intellectual Disability Syndrome	Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorch...	ORPHA:488632
White-Sutton Syndrome	Ventral hernia, Short stature, Inguinal hernia, Congenital diaphragmatic hernia, Obesity	ORPHA:468678
Alagille Syndrome 1	Hypertriglyceridemia, Macrotia, Ventricular septal defect, Atrial septal defect, Failure to thriv...	OMIM:118450
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity	OMIM:619680
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,...	ORPHA:90038
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Short stature	ORPHA:444077
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Hypopituitarism, Lipoma, Cryptorchidism	OMIM:603671
Angelman Syndrome Due To A Point Mutation	Obesity	ORPHA:411511
Beckwith-Wiedemann Syndrome	Hypothyroidism, Omphalocele, Wide anterior fontanel, Adrenocortical carcinoma, Obesity, Large for...	ORPHA:116
Ogden Syndrome	Patent foramen ovale, Macrotia, Cardiomegaly, Ventricular septal defect, Minimal subcutaneous fat...	OMIM:300855
Fabry Disease	Anemia, Abnormal circulating lipid concentration, Sensorineural hearing impairment, Optic atrophy...	ORPHA:324
Lathosterolosis	Anisopoikilocytosis, Failure to thrive, Abnormal platelet morphology, Thrombocytopenia, Hearing i...	ORPHA:46059
Cornelia De Lange Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Optic...	OMIM:122470
Alobar Holoprosencephaly	Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor...	ORPHA:93924
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Ventricular septal defect, Hyperextensibility of the finger joints, Microtia, Hyperbiliru...	ORPHA:163979
Semilobar Holoprosencephaly	Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor...	ORPHA:220386
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Cholesteatoma, Hyperinsulinemic hypoglycemia, Elevated circulating a...	OMIM:619991
Stevens-Johnson Syndrome	Anemia, Weight loss, Abnormality of neutrophils, Dysphagia, Thrombocytopenia, Abnormal myocardium...	ORPHA:36426
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma free...	ORPHA:228308
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Weight loss, Pericardial effusion, Arthritis, Pancytopenia, Hypertrophi...	OMIM:615846
Hardikar Syndrome	Patent foramen ovale, Ventricular septal defect, Hypersplenism, Hyperbilirubinemia, Atrial septal...	OMIM:301068
Aicardi-Goutières Syndrome	Cardiomegaly, Lipoatrophy, Multiple joint contractures, Chronic lymphatic leukemia, Arthritis, He...	ORPHA:51
Diamond-Blackfan Anemia 1	Ventricular septal defect, Reticulocytopenia, Atrial septal defect, Failure to thrive, Thrombocyt...	OMIM:105650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Obesity, Overweight	ORPHA:26793
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Short stature	OMIM:617260
Angelman Syndrome	Obesity	OMIM:105830
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Optic atrophy, Camptodactyly, Increased mean platelet volume, Inguinal herni...	ORPHA:487796
3Q29 Microduplication Syndrome	Obesity, Craniosynostosis, Camptodactyly of toe	ORPHA:251038
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Obesity	ORPHA:98794
Jacobsen Syndrome	Flexion contracture, Ventricular septal defect, Optic atrophy, Atrial septal defect, Failure to t...	OMIM:147791
Retinal Dystrophy With Or Without Macular Staphyloma	Short stature, Truncal obesity	OMIM:617547
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Lymphocytosis, Failure to thrive, Elevated circulating C-reactive protein concentrati...	OMIM:617718
Kabuki Syndrome	Precocious puberty, Short stature, Failure to thrive, Congenital diaphragmatic hernia, Cryptorchi...	ORPHA:2322
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Obesity, Precocious puberty, Cholelithiasis, Umbilical hernia	OMIM:301066
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Anemia, Bacterial endocarditis, Sensorineural hearing impairment, Cac...	ORPHA:2072
Hartsfield Syndrome	Diabetes insipidus, Gonadotropin deficiency, Growth delay, Cryptorchidism, Craniosynostosis	OMIM:615465
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity	OMIM:608624
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Short stature, Hydrocele testis, Abnormality of the thy...	OMIM:188400
Hellp Syndrome	Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concen...	ORPHA:244242
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulation test, Short...	ORPHA:268261
Nijmegen Breakage Syndrome	Macrotia, Hemolytic anemia, Cachexia, Autoimmune hemolytic anemia, Attention deficit hyperactivit...	ORPHA:647
Charge Syndrome	Short stature, Anterior hypopituitarism, Delayed puberty, Abnormality of the adrenal glands, Abno...	ORPHA:138
Immunodeficiency 40	Thrombocytopenia, T lymphocytopenia	OMIM:616433
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Leukopenia, Anemia, Optic atrophy, Pancytopenia, Ataxia, Thrombocytopenia...	OMIM:305000
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Sensorineural hearing impairment, Elevated circulating creatine kinase ...	ORPHA:565612
Leukocyte Adhesion Deficiency	Osteomyelitis, Short stature, Coronal craniosynostosis, Hyperinsulinemic hypoglycemia, Growth del...	ORPHA:2968
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus, Leukocytosis, ...	ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma free...	ORPHA:157
Xylt1-Cdg	Growth delay, Short stature, Truncal obesity	ORPHA:370930
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity, Cryptorchidism	OMIM:616078
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Obesity, Supernumerary nipple, Cryptorchidism	OMIM:618653
Nephrotic Syndrome, Type 1	Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Nijmegen Breakage Syndrome	Hyperactivity, Macrotia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Throm...	OMIM:251260
White-Kernohan Syndrome	Hypothyroidism, Obesity	OMIM:619426
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short stature, Failure to thrive, Pseudohypoparathyroidism, Obesity, Intrauterine growth retardation	OMIM:617157
Myhre Syndrome	Birth length less than 3rd percentile, Short stature, Small for gestational age, Camptodactyly, C...	OMIM:139210
Roberts Syndrome	Knee flexion contracture, Wrist flexion contracture, Synostosis of carpal bones, Radioulnar synos...	ORPHA:3103
Partial Deletion Of The Short Arm Of Chromosome 7	Bilateral cryptorchidism, Obesity, Mild short stature	ORPHA:261911
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Myocarditis, Weight loss, Lymphocytosis, Ataxia, Elevated circulating C-react...	ORPHA:50918
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ...	OMIM:613406
Jacobsen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the earlobes, Hypoplastic left heart, Inguinal h...	ORPHA:2308
Joubert Syndrome 8	Obesity	OMIM:612291
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint...	OMIM:313900
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Ventricular septal defect, Fused cervical vertebrae, Carpa...	OMIM:274000
Alström Syndrome	Precocious puberty in females, Short toe, Hyperinsulinemia, Elevated circulating thyroid-stimulat...	ORPHA:64
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia, Bilateral sensorineural hearing impairment	ORPHA:853
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity, Short stature	OMIM:614947
Koolen-De Vries Syndrome Due To A Point Mutation	Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende...	ORPHA:363958
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hemorrhagic Fever-Renal Syndrome	Anemia, Hyperphosphatemia, Decreased body weight, Hyperkalemia, Agitation, Leukocytosis, Elevated...	ORPHA:340
Aapoaiv Amyloidosis	Cardiac amyloidosis, Hypertrophic cardiomyopathy, Diabetes mellitus, Hyperlipidemia, Elevated cir...	ORPHA:439232
Adnp Syndrome	Short stature, Inguinal hernia, Cryptorchidism, Truncal obesity, Umbilical hernia	ORPHA:404448
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Hypogonadism, Short stature, Failure to thrive, Cryptorc...	ORPHA:1606
Rubinstein-Taybi Syndrome 1	Enamel hypoplasia, Premature thelarche, Flexion contracture, Wide anterior fontanel, Short statur...	OMIM:180849
Peters Plus Syndrome	Rhizomelia, Short stature, Anterior hypopituitarism, Spina bifida occulta, Inguinal hernia, Dispr...	ORPHA:709
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Obesity	OMIM:250420
Gabriele-De Vries Syndrome	Hypothyroidism, Distal arthrogryposis, Decreased response to growth hormone stimulation test, Sma...	ORPHA:506358
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Short stature, Decreased testicular size, Hypoplasia of the ovary, Abdominal...	OMIM:619321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Failure to thrive, Delayed puberty, Overweight, Obesity, Intrauterine grow...	OMIM:619475
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Microphthalmia, Syndromic 6	Female hypogonadism, Hypothyroidism, Anterior hypopituitarism, Lambdoidal craniosynostosis, Failu...	OMIM:607932
Sarcoidosis	Leukopenia, Anemia, Hemolytic anemia, Weight loss, Scarring, Increased T cell count, Hypercalcemi...	ORPHA:797
Williams-Beuren Syndrome	Hypothyroidism, Flexion contracture, Early onset of sexual maturation, Short stature, Diabetes me...	OMIM:194050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Obesity, Truncal obesity	ORPHA:466950
Chronic Thromboembolic Pulmonary Hypertension	Antiphospholipid antibody positivity, Obesity, Autoimmunity, Lupus anticoagulant	ORPHA:70591
Acute Liver Failure	Ataxia, Agitation, Hypoglycemia, Hyperammonemia, Thrombocytopenia	ORPHA:90062
Holoprosencephaly 7	Omphalocele, Fusion of the left and right thalami, Panhypopituitarism	OMIM:610828
Carpenter Syndrome 2	Knee flexion contracture, Bilateral cryptorchidism, Camptodactyly, Hypoplastic nipples, Supernume...	OMIM:614976
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Decreased response to growth hormone stimulation test, Absence of Stensen duct, Central diabetes ...	OMIM:129900
Crimean-Congo Hemorrhagic Fever	Leukopenia, Stiff neck, Pericardial effusion, Neutrophilia, Pancytopenia, Agitation, Elevated cir...	ORPHA:99827
Primrose Syndrome	Knee flexion contracture, Hypothyroidism, Flexion contracture, Hip contracture, Short stature, Bi...	OMIM:259050
Alport Syndrome 1, X-Linked	Thrombocytopenia, Sensorineural hearing impairment	OMIM:301050
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Ataxia, Elevated circulating creatine kinase conce...	ORPHA:466650
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Caroli Syndrome	Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Decreased response to growth hormone stimulation test, Absence of Stensen duct, Central diabetes ...	OMIM:604292
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia, Joint hemorrhage	ORPHA:35909
Cornelia De Lange Syndrome	Primary amenorrhea, Short stature, Intrauterine growth retardation, Failure to thrive, Delayed pu...	ORPHA:199
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Wide anterior fontanel, Camptodactyly, Growth delay, Cry...	OMIM:607872
Primary Sjögren Syndrome	Leukopenia, Abnormality of the peripheral nervous system, Normocytic anemia, Arthritis, Lymphopen...	ORPHA:289390
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Short stature, Keloids, Corneal scarring, Hydrocele testis, Failure to thrive, Cryptorchidism, Ob...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Short stature, Keloids, Corneal scarring, Hydrocele testis, Failure to thrive, Cryptorchidism, Ob...	ORPHA:353277
Glycogen Storage Disease Ic	Hyperuricemia, Gout, Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma	OMIM:232240
Charge Syndrome	Umbilical hernia, Hypothyroidism, Gonadotropin deficiency, Decreased response to growth hormone s...	OMIM:214800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Short stature, Keloids, Failure to thrive, Growth delay, Cryptorchidism, Obesity	ORPHA:353281
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity	ORPHA:466943
Noonan Syndrome 1	Sensorineural hearing impairment, Ventricular septal defect, Amegakaryocytic thrombocytopenia, Pu...	OMIM:163950
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Low-set...	ORPHA:731
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Short stature, Hypogonadism, Decreased testicular size, Cryptorchidism, Obesity	OMIM:309580
Monosomy 22Q13.3	Hypohidrosis, Obesity, Umbilical hernia	ORPHA:48652
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Abnormal circulating fatty-acid concentration, Hyperlipidemia, Splenom...	ORPHA:567983
Woodhouse-Sakati Syndrome	Sensorineural hearing impairment, Choreoathetosis, Diabetes mellitus, Hyperlipidemia, Hearing imp...	OMIM:241080
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Yellow Fever	Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Optic nerve compression, Weight loss	ORPHA:79078
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test	OMIM:180500
1P21.3 Microdeletion Syndrome	Obesity	ORPHA:293948
Pallister-Killian Syndrome	Enamel hypoplasia, Hypohidrosis, Flexion contracture, Mesomelic/rhizomelic limb shortening, Wide ...	OMIM:601803
Leptospirosis	Pericarditis, Hyperproteinemia, Thrombocytopenia, Papilledema	ORPHA:509
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Camptodactyly, Truncal obesity	OMIM:612474
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Myocardial steatosis, Hyperlipidem...	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ghrhr

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ghrhr.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Pharmacogenomics Study for Raloxifene in Postmenopausal Female with Osteoporosis.	Disease markers (August 2020)	Ghrhr^{tm1.1(KOMP)Vlcg}	PMC7479487
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Ghrhr^{tm1.1(KOMP)Vlcg}	PMC5503261
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells.	PloS one (July 2013)	Ghrhr^{tm1(KOMP)Vlcg}	PMC3699516

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MGI Allele	Allele Type	Produced
Ghrhr^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ghrhr^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ghrhr^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Ghrhr^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice

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Gene: Ghrhr MGI:95710

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Adult LacZ

Combined SHIRPA and Dysmorphology

Sleep Wake

Eye Morphology

X-ray

Eye Morphology

Auditory Brain Stem Response

Electroretinography

Electroretinography

Human diseases caused by Ghrhr mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data