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Gene: Cyp19a1 MGI:88587

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Gene Summary

Name:
cytochrome P450, family 19, subfamily a, polypeptide 1
Synonyms:
Cyp19,  Int-5,  aromatase,  ArKO,  p450arom,  Ar,  Int5

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased circulating alkaline phosphatase level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 4.21×10-10
increased circulating serum albumin level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 1.07×10-08
increased total body fat amount Cyp19a1tm1b(EUCOMM)Hmgu HOM   Early adult 9.94×10-06
decreased exploration in new environment Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 7.42×10-07
increased neutrophil cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 1.36×10-06
increased circulating cholesterol level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 1.76×10-09
decreased lean body mass Cyp19a1tm1b(EUCOMM)Hmgu HOM   Early adult 6.04×10-05
decreased exploration in new environment Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 5.34×10-06
decreased locomotor activity Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 4.41×10-05
decreased mean corpuscular hemoglobin concentration Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 6.27×10-05
decreased leukocyte cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 3.53×10-06
abnormal gait Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 6.71×10-05
tremors Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 8.67×10-05
thrombocytosis Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 4.82×10-13
decreased locomotor activity Cyp19a1tm1b(EUCOMM)Hmgu HOM   Late adult 3.43×10-14
increased anxiety-related response Cyp19a1tm1b(EUCOMM)Hmgu HOM   Late adult 4.00×10-05
decreased lymphocyte cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 8.96×10-09
increased blood urea nitrogen level Cyp19a1tm1b(EUCOMM)Hmgu HOM   Early adult 2.37×10-05

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  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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)
Gall bladder 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)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Parathyroid gland 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)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 586)
aorta 0.17% (1 of 594)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 588)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 590)
cerebellum 0.51% (3 of 594)
cerebral cortex 0.34% (2 of 588)
esophagus 1.69% (7 of 415)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 592)
kidney 4.55% (27 of 593)
large intestine 5.41% (32 of 592)
liver 0.0%
lower urinary tract 0.17% (1 of 586)
lung 0.34% (2 of 581)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 587)
oral epithelium 0.0%
ovary 0.17% (1 of 586)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 566)
peripheral nervous system 0.34% (2 of 587)
peyers patch 0.0%
pituitary gland 0.17% (1 of 589)
prostate gland 2.04% (12 of 588)
skeletal muscle 0.0%
skin 0.17% (1 of 593)
small intestine 5.43% (32 of 589)
spinal cord 0.51% (3 of 587)
spleen 0.51% (3 of 590)
stomach 3.73% (22 of 590)
striatum 0.51% (3 of 583)
testis 0.85% (5 of 591)
thymus 0.17% (1 of 590)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 590)
uterus 0.34% (2 of 590)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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Human diseases caused by Cyp19a1 mutations

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

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

The table below shows human diseases associated to Cyp19a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aromatase Deficiency
Delayed epiphyseal ossification, Ambiguous genitalia, female, Hyperlipidemia, Type II diabetes me... ORPHA:91
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Aromatase Excess Syndrome
OMIM:139300

The table below shows human diseases predicted to be associated to Cyp19a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Congenital Generalized Lipodystrophy
Bone cyst, Hepatomegaly, Hyperinsulinemia, Lipodystrophy, Clitoral hypertrophy, Polycystic ovarie... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... OMIM:604367
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... ORPHA:91349
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistan... OMIM:615703
Trichotillomania
Hair-pulling OMIM:613229
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Hypertr... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Abnormal labia majora mor... ORPHA:435660
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Blind vagina, Tall stature, Primary amenorrhea, Acne, Bilateral cryptorchidism, Increased antimul... ORPHA:99429
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Hemorrhagic ovarian cyst, Oligomenorrhea, Osteoporosis, Meno... ORPHA:397685
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... ORPHA:435651
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Thick e... ORPHA:247768
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Obsessive-Compulsive Disorder
Anxiety, Skin-picking OMIM:164230
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... ORPHA:90795
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... ORPHA:401901
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... ORPHA:562
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por... ORPHA:264580
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Primary amenorrhea, Sec... ORPHA:432
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Progressiv... OMIM:608709
Intellectual Developmental Disorder, Autosomal Recessive 52
Aggressive behavior OMIM:616887
Autosomal Recessive Spastic Paraplegia Type 64
Gait disturbance, Aggressive behavior ORPHA:401810
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Inguinal hernia, Sparse axillary hair, Absent facial hair, Eleva... OMIM:300068
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Tall stature, Micropenis, Hypospadias, Oligos... ORPHA:8
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Self-biting OMIM:619988
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... ORPHA:79083
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Micropenis, Sparse body hair, Hypogonadism, Abnormality o... ORPHA:85274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T... ORPHA:90794
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Low frustration tolerance OMIM:300615
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Self-injurious behavior, Steppage gait OMIM:613641
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... ORPHA:3085
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Dysmenorrhea, Sp... ORPHA:79240
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Pne... ORPHA:2298
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Aromatase Deficiency
Delayed epiphyseal ossification, Ambiguous genitalia, female, Hyperlipidemia, Type II diabetes me... ORPHA:91
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Small for gestational age, Abnorm... ORPHA:275555
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Dysmenorrhea, Insulin resistan... ORPHA:2348
Ovarian Fibrothecoma
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Per... ORPHA:314478
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Aggressive behavior OMIM:620038
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... OMIM:614561
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Flexion contracture, Osteoporosis, Elevated hepatic transaminase, L... OMIM:615381
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Impulsivity, Cognitive impairment, Depression, Abnormal pyram... ORPHA:216873
Ataxia-Telangiectasia
Telangiectasia of the skin, Premature graying of hair, Type II diabetes mellitus, Mucosal telangi... ORPHA:100
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior OMIM:607417
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Developmental And Epileptic Encephalopathy 31
Difficulty walking, Inability to walk, Self-injurious behavior OMIM:616346
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomega... ORPHA:90970
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Disproportion... OMIM:615300
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Acr... ORPHA:280365
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Dysmenorr... ORPHA:370
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation OMIM:137580
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia,... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:608594
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Thrombocythemia 2
Thrombocytosis OMIM:601977
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... ORPHA:85292
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Constipation, Decreased circulating androgen concentration, Abnormal external genitalia, Dispropo... ORPHA:95699
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Immunodeficiency 40
Lymphopenia OMIM:616433
Thrombocythemia 3
Thrombocytosis OMIM:614521
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, ... OMIM:615363
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Cleft upper lip, Cleft palate, Inguinal her... ORPHA:96181
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:269700
Rabson-Mendenhall Syndrome
High palate, Reduced subcutaneous adipose tissue, Hypertrichosis, Abnormality of the dentition, A... ORPHA:769
Aarskog-Scott Syndrome
Cleft upper lip, Failure to thrive, Testicular atrophy, Decreased serum testosterone concentratio... OMIM:305400
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Depression, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, A... OMIM:615362
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Donohue Syndrome
Nail dysplasia, Wide mouth, Gingival overgrowth, Hyperinsulinemia, Precocious puberty, Hypertrich... OMIM:246200
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Insulin resistance, Cir... ORPHA:79086
46,Xy Sex Reversal 1
Sex reversal, Tall stature, Abnormality of male external genitalia, Elevated circulating luteiniz... OMIM:400044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Impaired glucose t... OMIM:610947
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... OMIM:619491
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Small for gestational age, Hypospadias, Vaginal neoplasm, D... ORPHA:1916
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Thin vermilion border, Sparse body hair, Truncal obesity, Decreased testicular... ORPHA:261483
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Hyperpigmentation of... OMIM:619151
Familial Male-Limited Precocious Puberty
Precocious puberty, Tall stature, Oligospermia, Long penis, Male infertility, Acne, Abnormal hair... ORPHA:3000
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Galactokinase Deficiency
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for ge... ORPHA:79237
Immunodeficiency 8
Lymphopenia OMIM:615401
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Myotonic Dystrophy 2
Type II diabetes mellitus, Decreased circulating IgG level, Premature ventricular contraction, Fr... OMIM:602668
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic bil... OMIM:614866
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... ORPHA:3130
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Transaldolase Deficiency
Wide mouth, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Thin vermilion... OMIM:606003
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Omphalocele, Hypoplastic labia majora, Ana... OMIM:618419
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Temple Syndrome
Joint hypermobility, Flexion contracture, Small for gestational age, Maturity-onset diabetes of t... OMIM:616222
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hepatomegaly, Aminoaciduria, Cleft palate, Joint contracture of the hand, Hypo... OMIM:214110
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unila... OMIM:601076
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Woodhouse-Sakati Syndrome
Anodontia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to gr... ORPHA:3464
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... ORPHA:324575
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Memory impairment, Sh... ORPHA:412066
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior OMIM:617270
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Hepatomegaly,... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Thick eyebrow OMIM:309585
Bardet-Biedl Syndrome 16
Recurrent otitis media, External genital hypoplasia, Renal agenesis, Abnormality of the kidney, R... OMIM:615993
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Irregular menstruation, Hyperostosis fro... OMIM:144800
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia, Irrit... OMIM:612126
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Al Amyloidosis
Autonomic erectile dysfunction, Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, P... ORPHA:85443
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity, Hypogonadism OMIM:615988
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Macroorchidism, Flexion contracture, Resting tremor, Babinski sign, Parkins... OMIM:300055
Kennerknecht syndrome
High palate, Abdominal obesity, Malrotation of colon, Hypoplasia of the uterus, Hypodontia, Renal... OMIM:600908
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Bardet-Biedl Syndrome 12
Abnormality of the kidney, Obesity, Hypogonadism OMIM:615989
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity OMIM:611105
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... OMIM:613877
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Complement deficiency, Decreased serum comp... ORPHA:449395
Seckel Syndrome 5
High palate, Hypodontia, Oligodontia, Clitoral hypertrophy, Cryptorchidism, Selective tooth agenesis OMIM:613823
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hepatomegaly, Elevated circulating creatine kinase concentratio... OMIM:610717
Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue d... ORPHA:189439
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia, Dementia OMIM:615889
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... ORPHA:171706
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic ... ORPHA:163971
Zellweger Syndrome
High palate, Failure to thrive, Abnormality of the tongue, Malabsorption, Hepatomegaly, Hypospadi... ORPHA:912
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Malabsorption, Hypoplasia of the uterus, Alopecia, Diarrhea, Mi... OMIM:600705
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Bangstad Syndrome
Ataxia, EEG abnormality, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of t... ORPHA:1227
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia OMIM:615010
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gestational age, Dia... OMIM:262190
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism, Obesity OMIM:615987
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, O... OMIM:610628
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Hernia of the abdominal wall, Eczema, Aplasia/Hypoplasia of the testes, Obes... ORPHA:3055
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea... ORPHA:85450
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... ORPHA:791
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp OMIM:159900
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Difficulty walking, G... ORPHA:98764
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... ORPHA:314632
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Aggressive behavior, Self-mutilation OMIM:616269
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Short mandibular condyles OMIM:264270
Congenital Fibrinogen Deficiency
Abnormality of the subungual region, Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, ... ORPHA:335
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Failure to thrive, Type II diabetes mellitus, Decreased... ORPHA:163976
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffu... ORPHA:276575
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Bifid scrotum, Micropenis, Perineal hypospadias,... ORPHA:199310
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior OMIM:618339
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adeno... ORPHA:79259
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffu... ORPHA:276580
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Rudiger Syndrome
Bicornuate uterus, Inguinal hernia, Micropenis, Ovarian cyst, Flexion contracture, Ureterovesical... OMIM:268650
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Small for gestat... OMIM:300148
46,Xy Sex Reversal 4
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... OMIM:154230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
N-Acetylaspartate Deficiency
Truncal ataxia, Unsteady gait, Self-mutilation OMIM:614063
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytope... OMIM:229050
Cednik Syndrome
Nephrotic syndrome, Abnormality of the dentition, Optic atrophy, Proteinuria, Hypogonadism, Abnor... ORPHA:66631
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... ORPHA:306692
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Woodhouse-Sakati Syndrome
Anodontia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Abnormal T-wave,... OMIM:241080
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Hypoglycemia... OMIM:307030
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hirsutism, Ovarian cyst, Hypovolemia, Hemorrhagic ovarian cys... ORPHA:64739
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Coffin-Siris Syndrome 9
High palate, Sparse scalp hair, Hypertrichosis, Hypoplasia of the uterus, Hypoplastic fifth finge... OMIM:615866
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk... ORPHA:400
Developmental And Epileptic Encephalopathy 59
Inability to walk, Self-injurious behavior OMIM:617904
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia OMIM:261550
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Dystonia, Irritabilit... OMIM:606438
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Hirsutism, Adrenal overactivity, Premature pubarche, Increased circulating androgen c... OMIM:145295
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Abnormality of the kidney, Renal cyst,... OMIM:615982
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Hypospadias, Enamel hypoplasia, Clitoral hypertro... OMIM:210600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Secondary amenorrhea, Insulin-resi... OMIM:268020
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... ORPHA:1772
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... OMIM:604326
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Increased serum testosterone level, Ambiguous genitalia, Aplasia of the... OMIM:618901
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Depression, Mental deterioration, Dysdiadochokinesis, Abnormal pyramidal sign, Park... OMIM:213600
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Poor eye contact, Poor fine motor coordination, Maturity-onset diabetes of th... ORPHA:254531
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Congenital diaphragmatic hern... OMIM:601186
H Syndrome
Amenorrhea, Recurrent fractures, Histiocytosis, Micropenis, Hepatosplenomegaly, Camptodactyly, Li... ORPHA:168569
Spinocerebellar Ataxia Type 28
Limb ataxia, Cognitive impairment, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor... ORPHA:101109
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Thin vermilion border, Primary amenorrhea, Tachycardia, Optic dis... OMIM:619737
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression... ORPHA:240085
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Recurrent pneumonia, Decreased testicular... OMIM:614962
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... OMIM:159550
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Cryptorchidism, Nephropathy, Type I diabetes mellitus, Proteinuria, Hypertens... ORPHA:1192
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal hair quantity, Hypogonadism, Obesity, Low posterior hairline, Abnormal test... ORPHA:2233
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
C Syndrome
High palate, Wide mouth, Thick anterior alveolar ridges, Accessory oral frenulum, Hepatomegaly, R... OMIM:211750
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Irregular menstruation, Overgrowth, Shyness, Polycystic ov... OMIM:616831
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sp... OMIM:110100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... OMIM:208920
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dystonia, Dementia OMIM:605909
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Igg4-Related Submandibular Gland Disease
Complement deficiency, Enlarged lacrimal glands, Enlargement of parotid gland, Increased circulat... ORPHA:449432
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy ORPHA:2229
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Cryptorchidism,... ORPHA:2849
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, Optic disc pallor, Clitoral hypertrophy, Brushfield spots, Prolonged n... OMIM:214100
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... ORPHA:36899
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... OMIM:616185
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... OMIM:603218
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... OMIM:203800
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... ORPHA:457059
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Sparse pu... ORPHA:243
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... ORPHA:2232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia OMIM:604416
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... OMIM:615559
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... ORPHA:754
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
48,Xxyy Syndrome
Infertility, Taurodontia, Type II diabetes mellitus, Hypoplasia of penis, Cleft palate, Open bite... ORPHA:10
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... ORPHA:1359
Melioidosis
Splenic abscess, Prostatitis, Cellulitis, Osteoarthritis, Brain abscess, Abnormality of the splee... ORPHA:31202
Sheehan Syndrome
Impotence, Dyspareunia, Central adrenal insufficiency, Constipation, Decreased circulating cortis... ORPHA:91355
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Micropenis, Downturned corners of mouth, Diabet... ORPHA:85282
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hepatomegaly, Hemothorax, Diarrhea, He... ORPHA:99827
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Neuroendocrine neoplasm, Hyperaldosteronism, Abnormal libido, Increased body weight, Macronodular... ORPHA:189427
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... ORPHA:71517
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Distal Monosomy 10P
Ectopic anus, Anal atresia, Hypoplastic toenails, Hypoplasia of penis, Cleft palate, Abnormal fin... ORPHA:1580
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Multiple joint contractures, Fragile teeth, Alopecia, Hypergonadotro... ORPHA:2959
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
Multiple Symmetric Lipomatosis
Joint stiffness, Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resi... ORPHA:2398
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffuse pancreatic isle... ORPHA:276556
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Hemolytic anemia, Neutropenia, Spastic tetraparesis OMIM:266130
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Osteopenia, Osteolysis involving bones of the lower limbs, O... ORPHA:371428
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Tall stature, Hypospadias, Elevated circulating luteinizing horm... OMIM:400045
Werner Syndrome
Slender build, Telangiectasia of the skin, Joint stiffness, Type II diabetes mellitus, Lipoatroph... ORPHA:902
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... OMIM:137920
Wilson-Turner Syndrome
Thick eyebrow, Hypogonadotropic hypogonadism, Truncal obesity, Cryptorchidism, Thin upper lip ver... ORPHA:3459
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... ORPHA:79299
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Fibrous Dysplasia Of Bone
Elevated circulating alkaline phosphatase concentration, Ovarian cyst, Thin bony cortex, Abnormal... ORPHA:249
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Tremor, Ataxia, Myoclonus OMIM:616187
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Oculocerebrofacial Syndrome, Kaufman Type
Wide mouth, Failure to thrive, High, narrow palate, Absent eyebrow, Thin vermilion border, Thin e... ORPHA:2707
Aica-Ribosuria Due To Atic Deficiency
Wide mouth, Fused labia minora, Optic atrophy, Clitoral hypertrophy, Thin upper lip vermilion OMIM:608688
Bent Bone Dysplasia Syndrome 1
Hirsutism, Gingival overgrowth, Clitoral hypertrophy, Hepatosplenomegaly OMIM:614592
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Long p... ORPHA:85201
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Babinski sign, Parkinsonism, Chorea... OMIM:618093
Cowden Syndrome 1
Hydrocele testis, High palate, Narrow mouth, Thyroiditis, Lymphopenia, Hyperthyroidism, Ovarian c... OMIM:158350
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... OMIM:615768
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Perrault Syndrome 1
High palate, Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Insulin resistance, Small for gestational age, Osteoporosis, Truncal obesity, ... ORPHA:73272
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... ORPHA:3261
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Sparse hair, Truncal obesity, Umbilical hernia, Pol... ORPHA:284180
Immunodeficiency 19
Lymphopenia OMIM:615617
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ...