Gene Summary

Name:
relaxin/insulin-like family peptide receptor 2
Synonyms:
Great,  LGR8,  Gpr106

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating alkaline phosphatase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 6.67×10-10
increased hemoglobin content Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 3.91×10-06
small testis Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
urinary bladder obstruction Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating lipase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 9.44×10-07
increased circulating aspartate transaminase level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 4.34×10-05
prolonged QT interval Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 5.09×10-07
increased circulating sodium level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 9.42×10-07
decreased locomotor activity Rxfp2tm1a(EUCOMM)Wtsi HOM Early adult 9.18×10-06
increased pulmonary respiratory rate Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.97×10-18
increased heart rate variability Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 3.28×10-06
increased hematocrit Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.11×10-05
increased erythrocyte cell number Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 4.01×10-06
abnormal optic disk morphology Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 1.48×10-05
abnormal liver morphology Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal lens morphology Rxfp2tm1b(EUCOMM)Wtsi HOM   Early adult 8.90×10-05
increased circulating calcium level Rxfp2tm1b(EUCOMM)Wtsi HOM Early adult 8.94×10-05

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
Testis  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Chest bone N/A heterozygote 0.0% (0 of 1)
Colon N/A heterozygote 0.0% (0 of 1)
Cranium N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Main olfactory bulb N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 1)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
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)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
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)
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Rxfp2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Rxfp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... OMIM:614840
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Cryptorchidism, Corpus cave... OMIM:615542
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Erythrocytosis, Familial, 1
Increased red blood cell mass, Exertional dyspnea, Cerebral hemorrhage, Increased hematocrit, Hyp... OMIM:133100
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Elevated circu... OMIM:610198
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Hemolytic anemia, Abnormal auditory evoked potentials, Conjuncti... ORPHA:529799
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... ORPHA:3202
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Rhabdoid Tumor
Respiratory insufficiency, Anemia, Neoplasm of the liver, Hematuria, Hypertension, Internal hemor... ORPHA:69077
Neuroleptic Malignant Syndrome
Hypotension, Abnormal autonomic nervous system physiology, Elevated hepatic transaminase, Elevate... ORPHA:94093
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:614858
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Diffuse Neonatal Hemangiomatosis
Anemia, Renal insufficiency, Hypercalcemia, Hepatomegaly, Thrombocytopenia, Abnormal vagina morph... ORPHA:2123
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Abnormality of th... OMIM:264600
Autoimmune Hypoparathyroidism
Conjunctivitis, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Ventricula... ORPHA:36913
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi... OMIM:613673
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... OMIM:146110
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Episodic tachypnea, Jaundice, Elevated hepatic trans... ORPHA:26793
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... ORPHA:57777
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increased bl... ORPHA:231111
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Cryptorchidism ORPHA:85274
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Romano-Ward Syndrome
Sudden cardiac death, Abnormal T-wave, Torsade de pointes, Abnormal autonomic nervous system phys... ORPHA:101016
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... ORPHA:264675
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hyperalaninemia, Hypoornithinemia, Ketonuria, Elevated uri... OMIM:615751
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... ORPHA:94080
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... ORPHA:45452
Erythrocytosis, Familial, 4
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... OMIM:611783
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Hyponatremia OMIM:616949
Erythrocytosis, Familial, 5
Increased hematocrit, Elevated circulating erythropoietin concentration, Increased hemoglobin, Po... OMIM:617907
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Hereditary Coproporphyria
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, H... ORPHA:79273
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... OMIM:202150
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Crescentic glomerulonephritis, Ele... OMIM:616414
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94090
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Respiratory insufficiency, Re... OMIM:613845
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Calcinosis, Hypophosphatemia, Hyperphosphaturia, Elevated circulating para... OMIM:239200
Timothy Syndrome
Hypothyroidism, Prolonged QT interval, Hypocalcemia, Pneumonia, Bradycardia OMIM:601005
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, 3-Methylglutaconic aciduria, Normochromic microcytic anemia, Microvesicular hepat... ORPHA:66634
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypophosphatasia
Respiratory insufficiency, Anemia, Hypercalcemia, Emphysema ORPHA:436
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Primary Familial Polycythemia
Exertional dyspnea, Polycythemia, Epistaxis, Dyspnea, Cough, Abnormal hemoglobin ORPHA:90042
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Avian Influenza
Pneumothorax, Productive cough, Elevated hepatic transaminase, Elevated circulating creatine kina... ORPHA:454836
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Hypoxe... ORPHA:71275
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... OMIM:613280
Hepatocellular Carcinoma
Hypotension, Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobil... ORPHA:88673
Beta-Thalassemia
Respiratory insufficiency, Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardi... ORPHA:848
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... ORPHA:36238
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Increas... ORPHA:100076
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... OMIM:171420
Tempi Syndrome
Telangiectasia, Increased hematocrit, Hypoxemia, Intracranial hemorrhage, Polycythemia, Transudat... ORPHA:284227
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration OMIM:619040
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Snakebite Envenomation
Hypotension, Cerebral ischemia, Respiratory paralysis, Acute kidney injury, Cardiogenic shock, Hy... ORPHA:449285
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Decreased level of erythritol in urine, Increased level of ribose in urine, Elevat... OMIM:608611
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... ORPHA:90791
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Elevated circulati... OMIM:619658
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Hypovolemia, Hydroureter, Nephrogenic diabetes insipidus, Renal... ORPHA:223
Glucose-Galactose Malabsorption
Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Nephrolithiasis ORPHA:35710
Webb-Dattani Syndrome
Vesicoureteral reflux, Diabetes insipidus, Decreased response to growth hormone stimulation test,... OMIM:615926
Acute Interstitial Pneumonia
Reduced hematocrit, Bronchiectasis, Hypoxemia, Hypertension, Pleural effusion, Crackles, Dyspnea,... ORPHA:79126
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Hypernatremia, Nephrogenic diabetes insipidus, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Hypernatremia, Diabetes insipidus, Megacystis OMIM:304800
Mastocytosis
Hypotension, Respiratory insufficiency, Asthma, Telangiectasia of the skin, Mastocytosis, Cough, ... ORPHA:98292
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Hyperkalemia, Increased circulat... ORPHA:171876
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... OMIM:616963
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... ORPHA:90647
Hemochromatosis, Type 4
Anemia, Cirrhosis, Impotence, Elevated transferrin saturation, Hepatic steatosis, Diabetes mellit... OMIM:606069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... ORPHA:71212
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased circulating ... OMIM:610600
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyperuricemia, Premature ovarian insufficiency, Normocytic ... ORPHA:199299
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Late-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556037
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Telangiectasia, Impotence, Azoospermia, Hepatocellular carcinoma... OMIM:235200
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... OMIM:171300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalcemia, Cryptorchidism... OMIM:614732
Hyperparathyroidism 4
Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Chronic kidney... ORPHA:97362
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Acute Adrenal Insufficiency
Hypotension, Decreased circulating aldosterone level, Decreased female libido, Decreased circulat... ORPHA:95409
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Oculoskeletodental Syndrome
Hypothyroidism, Developmental cataract, Lacunar stroke, Mucopolysacchariduria, Hypercalcemia, Hep... OMIM:618440
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hyperphosphatemia, Hepatic failure, Hypocapnia, Acute kidney injury... ORPHA:466650
Colchicine Poisoning
Hypotension, Renal insufficiency, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, ... ORPHA:31824
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... ORPHA:91354
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... ORPHA:94086
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cryptorchidism ORPHA:3055
Early-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556030
Xq27.3Q28 Duplication Syndrome
Premature ovarian insufficiency, Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Phosphoethanolaminuria, Elevated urine pyrophosphate, Intr... OMIM:241500
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Enlarged kidney, Membranoproliferative glomerulonephr... ORPHA:251004
Acute Lung Injury
Increased circulating surfactant protein level, Hypoxemia, Respiratory distress, Diffuse alveolar... ORPHA:178320
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... ORPHA:94089
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Hypertension associated with pheochromoc... ORPHA:276621
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, Abnormality of the liver, Re... ORPHA:79473
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased... OMIM:203400
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hype... ORPHA:251274
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Polycystic kidney dysplas... OMIM:145001
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Elevated circulating acylcarnitine concentration, Hypothyroidism, Premature t... OMIM:616878
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Abnormality of peripheral nerve conducti... ORPHA:79102
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Tachypnea, Lacticaciduria, Ne... ORPHA:3008
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... OMIM:300539
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Addison Disease
Hypotension, Decreased circulating aldosterone level, Decreased female libido, Decreased circulat... ORPHA:85138
Ethylene Glycol Poisoning
Hypotension, Episodic respiratory distress, Renal insufficiency, Decreased urine output, Renal tu... ORPHA:31826
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... ORPHA:90068
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... ORPHA:1667
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Decreased circulating para... OMIM:143880
Tetanus
Abnormal autonomic nervous system physiology, Elevated urinary epinephrine, Hypertension, Respira... ORPHA:3299
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Pancytopenia, Tachypnea, Apnea, Hyperammonemia, I... OMIM:606054
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,... ORPHA:231222
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Mirage Syndrome
Leukopenia, Anemia, Aspiration pneumonia, Microphallus, Adrenal insufficiency, Shawl scrotum, Dec... OMIM:617053
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... OMIM:610628
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystine... OMIM:614857
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Decreased urinary po... ORPHA:358
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sinus tachycardia... ORPHA:29072
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pri... OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Elevated crea... ORPHA:284426
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Hyperkalemic Periodic Paralysis
Respiratory insufficiency, Hypokalemia, Hyperkalemia, Congestive heart failure, Elevated circulat... ORPHA:682
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Vipoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... ORPHA:97282
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Anemia, Hyperalaninemia, Elevated circulating... OMIM:615838
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:613327
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Hao-Fountain Syndrome
Micropenis, Premature adrenarche, Cryptorchidism OMIM:616863
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Legionnaires Disease
Hypotension, Respiratory insufficiency, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia... ORPHA:549
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketonuria, Abnormal EKG, Elevate... ORPHA:480864
Familial Isolated Hyperparathyroidism
Primary hyperparathyroidism, Parathyroid adenoma, Hypophosphatemia, Hyperphosphaturia, Elevated c... ORPHA:99879
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... ORPHA:90065
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... ORPHA:309854
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Pseudohypoparathyroidism Type 1C
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... ORPHA:79444
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Gitelman Syndrome
Hypotension, Hypokalemia, Increased circulating renin level, Nocturia, Prolonged QT interval, Pol... OMIM:263800
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... OMIM:177735
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hyperparathyroidism, Hypercalcemia, Nephrocalcinosis, Hypercalciuria OMIM:239199
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Adenohypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95512
Necrotizing Enterocolitis
Hypotension, Peritonitis, Shock, Apnea, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia... ORPHA:391673
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Hypoxemia, Reticulocytosis, Persistence of hem... ORPHA:232
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Hyperbilirubinemia,... ORPHA:542323
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Hypertensive retinopa... ORPHA:892
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hyperglycinemia, Optic atrophy, Dilated cardiomyopathy, Respiratory di... OMIM:614299
Methionine Malabsorption Syndrome
Aminoaciduria, Blue irides, Positive ferric chloride test, Tachypnea OMIM:250900
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Fumarase Deficiency
Aminoaciduria, Hepatic failure, Optic atrophy, Hyperbilirubinemia, Polycythemia, Cholestasis OMIM:606812
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemi... OMIM:620085
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... OMIM:264300
Whipple Disease
Hypotension, Hypothyroidism, Anemia, Respiratory insufficiency, Erectile dysfunction, Pericarditi... ORPHA:3452
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hyperkalemia, Apnea, Hyponatremia, Adrenal hypoplasia OMIM:240200
Alg8-Cdg
Anemia, Retinopathy, Optic atrophy, Elevated hepatic transaminase, Cataract, Hyponatremia, Thromb... ORPHA:79325
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism OMIM:308100
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, Acute kidney injury, Hyperkalemia, Tachypnea, El... ORPHA:423
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Porphyria Due To Ala Dehydratase Deficiency
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Purple urine, Ventilator... ORPHA:100924
Poems Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... ORPHA:2905
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... ORPHA:54057
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Image Syndrome
Adrenal hypoplasia, Hypospadias, Hypogonadism, Cryptorchidism ORPHA:85173
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypocalcemia, Hypercalcemia, Developmental cataract ORPHA:557003
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:168558
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:289548
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Hypon... OMIM:264350
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis OMIM:615508
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Micropenis OMIM:614880
Sarcoidosis
Hypothyroidism, Abnormal conjunctiva morphology, Pneumothorax, Bronchiectasis, Keratoconjunctivit... ORPHA:797
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... OMIM:603553
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... ORPHA:37553
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Cataract, Hypoparathyroidism, Decreased circulating parathyroid hormone level,... OMIM:146200
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Delayed puberty, Cryp... OMIM:275400
Cholera
Hypotension, Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injury, Hypokalem... ORPHA:173
Bardet-Biedl Syndrome 4
External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... OMIM:614736
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin d... ORPHA:199296
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Familial Isolated Hypoparathyroidism
Arrhythmia, Nephropathy, Cataract, Hypoparathyroidism, Abnormal calcium-phosphate regulating horm... ORPHA:2238
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intermediate Osteopetrosis
Anemia, Cranial nerve compression, Optic atrophy from cranial nerve compression, Hypocalcemia, He... ORPHA:210110
Bacterial Toxic-Shock Syndrome
Hypotension, Renal insufficiency, Hepatitis, Peritonitis, Increased circulating metamyelocyte cou... ORPHA:36234
Joubert Syndrome 9
Hepatic fibrosis, Episodic tachypnea, Stage 5 chronic kidney disease, Retinal dystrophy, Apnea, A... OMIM:612285
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Sheehan Syndrome
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:91355
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... ORPHA:85451
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Congenital hypoparathyroidism, Male infertility, Hypocalcemic seizures, Hypoca... ORPHA:2239
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... ORPHA:79443
Pituitary Apoplexy
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:95613
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, ... OMIM:619381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hashimoto thyr... ORPHA:83601
Livedoid Vasculopathy
Anemia, Abnormal circulating lipid concentration, Ischemic stroke, Telangiectasia of the skin, Hy... ORPHA:542643
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Familial Hypoaldosteronism
Hypotension, Hypovolemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyperka... ORPHA:427
Multiple Carboxylase Deficiency
Optic atrophy, Respiratory distress, Organic aciduria, Hyperammonemia, Tachypnea ORPHA:148