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Gene: Egr1 MGI:95295

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Gene Summary

Name:
early growth response 1
Synonyms:
NGF1-A,  Zfp-6,  Krox-1,  Krox24,  A530045N19Rik,  TIS8,  Krox-24,  Zif268,  Egr-1,  NGFI-A,  NGFIA,  Zenk,  ETR103

Order Alleles

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
increased lymphocyte cell number Egr1tm1b(NCOM)Mfgc HET Early adult 1.70×10-05
decreased body length Egr1tm1b(NCOM)Mfgc HET Early adult 3.86×10-05
embryonic growth retardation Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal optic disk morphology Egr1tm1b(NCOM)Mfgc HOM Early adult 3.38×10-05
absent seminal vesicle Egr1tm1b(NCOM)Mfgc HOM Early adult 0.00
abnormal neural tube closure Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal embryo size Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal midbrain development Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal hindbrain development Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
male infertility Egr1tm1b(NCOM)Mfgc HOM Early adult 0.00
abnormal forebrain development Egr1tm1b(NCOM)Mfgc HOM E9.5 0.00
preweaning lethality, incomplete penetrance Egr1tm1b(NCOM)Mfgc HOM   Early adult 0.00
short tibia Egr1tm1b(NCOM)Mfgc HET Early adult 8.95×10-06
small uterus Egr1tm1b(NCOM)Mfgc HOM Early adult 0.00
female infertility Egr1tm1b(NCOM)Mfgc HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Axial skeleton N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 50% (2 of 4)
Brain N/A homozygote 100% (1 of 1)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 50% (2 of 4)
Ear N/A homozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (4 of 4)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 50% (2 of 4)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 50% (2 of 4)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 50% (2 of 4)
Forelimb N/A homozygote 100% (1 of 1)
Gut N/A heterozygote 100% (2 of 2)
Gut N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 50% (2 of 4)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 50% (2 of 4)
Heart N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 50% (2 of 4)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 50% (2 of 4)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 50% (2 of 4)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 50% (2 of 4)
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 50% (2 of 4)
Midbrain N/A homozygote 100% (1 of 1)
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (2 of 4)
Oral cavity N/A homozygote 100% (1 of 1)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Chorioallantoic placenta N/A homozygote 100% (1 of 1)
Skeleton N/A heterozygote 100% (2 of 2)
Skeleton N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 50% (2 of 4)
Skin N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 50% (2 of 4)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 50% (2 of 4)
Tail N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (2 of 2)
Trachea N/A homozygote 100% (1 of 1)
Urinary system N/A heterozygote 100% (2 of 2)
Urinary system N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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 Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Histopathology

Images

10 Images

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Gross Pathology and Tissue Collection

Images

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Egr1 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 Egr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Nondisjunction
Decreased fertility OMIM:158250
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Impaired social interactions, Short stature, Intrauterine growth retar... ORPHA:163976
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Shyness, Short stature, Failure to thrive, Absence of secondary sex characteristics,... ORPHA:163971
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
46,Xy Sex Reversal 11
Vanishing testis, Gonadal dysgenesis with female appearance, male, Aplasia of the uterus, Decreas... OMIM:273250
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Increased circulating ... OMIM:300869
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
49,Xxxyy Syndrome
External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin level, Micrope... ORPHA:261534
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... OMIM:614841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Micropenis, Anxiety, Breast hypoplasia, Hypogonadotropic hypogonadism, Abse... ORPHA:432
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Short stature, Ambiguous ge... ORPHA:90796
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Failure to thrive, Hypogonadism, Irritability, Emotional lability, Decreased testi... OMIM:201100
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... ORPHA:99330
Ring Chromosome Y Syndrome
Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia... ORPHA:261529
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Male infertility, Abnormali... OMIM:261550
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Cerebral cortical atrophy, Premature ovarian insu... ORPHA:101006
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Decreased circulating antibody l... OMIM:300635
Macrophage Activation Syndrome
Neutropenia, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Abnormal seru... ORPHA:158061
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Decreased testicular size, Male i... OMIM:619528
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Growth delay, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary s... ORPHA:2232
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Lymphadenopathy, Pleuritis, Splenomegaly, Recurrent... ORPHA:47612
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Increased circulating ferritin concentra... ORPHA:158057
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Decreased serum estradiol, Increas... OMIM:615300
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myelodysplasia, Pancytopenia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, C... OMIM:614742
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Hypogonadotropic hypogonadism, Pitui... ORPHA:157954
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Intrauterine growth retardation, Microcephaly OMIM:306990
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Nodular regenerative hyperplasia of liver, Increased circulating fer... ORPHA:210136
Diethylstilbestrol Syndrome
Testicular dysgenesis, Decreased fertility in females, Hypospadias, Small for gestational age, Ab... ORPHA:1916
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... ORPHA:90797
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Osteopenia OMIM:619256
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Aplasia of the uterus, Elevated circulating follicle stimulating... ORPHA:289548
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Hyperbilirubine... OMIM:607765
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Estrogen Resistance
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Perrault Syndrome 3
Short stature, Primary amenorrhea, Hypergonadotropic hypogonadism, Microcephaly, Hypoplasia of th... OMIM:614129
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... OMIM:618986
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Aspergillosis
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Pleuritis,... ORPHA:1163
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Fetal Cytomegalovirus Syndrome
Abnormality of vision, Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
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
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
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
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Growth delay, Elevated circulating creatine kinase concentration, Cataract, Pulmona... OMIM:615704
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Apathy, ... ORPHA:465508
Woodhouse-Sakati Syndrome
Growth delay, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube... ORPHA:3464
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Truncal obesity, Hypogonadism,... ORPHA:261483
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
47,Xyy Syndrome
Oligospermia, Macroorchidism, Increased serum testosterone level, Hypospadias, Azoospermia, Incre... ORPHA:8
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Short stature, Lymphadenitis, Lymphadenopathy, Abscess, Splenomegaly, Granuloma, Crohn's ... OMIM:618935
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pulmonary fibrosis, Myeloid leuke... OMIM:614743
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Short stature, Ambiguous genitalia, female, Urogenital sinus anomaly,... ORPHA:1772
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Cholelithiasis, An... ORPHA:848
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Short s... ORPHA:247768
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short stature, Failu... OMIM:305400
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Pulmonary hemorrhage, Recurrent lower respiratory tra... OMIM:619644
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Lymphoproliferative disorder, Leukemia, Monocytosis, Lymphoma, Splenom... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Dysgammaglobuli... OMIM:308240
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism OMIM:607080
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Small for gestational age, Hypergonadotropic hypogonadism, Insulin-resistant diabete... ORPHA:2959
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... OMIM:603552
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Growth delay, Decreased circulating IgA level, Oligoarthritis, Decreased ci... OMIM:619510
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Eunuchoid habitus, Type I diabetes melli... ORPHA:3044
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Ocular albinism, Chronic oral candidiasis, Recurrent otitis media, Enl... OMIM:608233
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver, Corneal opacity, Thrombo... ORPHA:1980
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cirrhosis, Increased circulating ant... OMIM:178500
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... ORPHA:206484
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature OMIM:616113
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Seckel Syndrome 7
Central hypothyroidism, Intrauterine growth retardation, Severe short stature, Primary amenorrhea... OMIM:614851
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Short stature, Hypogonadotropic ... ORPHA:90695
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Anemia of inadequate production, Leukocytosis, Myelodysplasia, Neutropenia, Normocy... ORPHA:75564
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Nodular pattern on pulmonary HRCT, Follicular hyperpl... ORPHA:60026
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycy... ORPHA:280356
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Short stature, Anemia, Aplasia/Hyp... ORPHA:290
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Short stature, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Ovarian Dysgenesis 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Interstitial pneumonitis, Bone marrow hypocellularity, Squamous cell carcinoma of... OMIM:127550
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Short stature, Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Abnorma... OMIM:619013
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy,... ORPHA:809
Lymphoproliferative Syndrome 1
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Stomatitis, Lymphoproliferative disorder, Lymphadenop... OMIM:613011
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Elevated bronchoalveolar... OMIM:612387
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Short stature, Premature adrenarche, Ambiguous genitalia, fem... ORPHA:90795
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Anemia, Elevated gamma-glutamyltransferase level,... OMIM:615486
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Intrauterine growth retardation OMIM:189800
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulm... ORPHA:99931
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Aplas... ORPHA:754
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Meningioma
Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Fo... ORPHA:2495
Acute Interstitial Pneumonia
Reduced hematocrit, Reticulonodular pattern on pulmonary HRCT, Bronchiectasis, Lymphadenopathy, I... ORPHA:79126
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Short stature, Failure to thrive, Female infertility, Premature ovaria... OMIM:619518
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Microphthalmia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammator... ORPHA:3260
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Ascites, Lymphadenopathy, Cardiome... ORPHA:858
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Hypogonadotropic hypogonadism, P... ORPHA:95619
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... ORPHA:2137
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... ORPHA:169160
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Short stature, Recurrent cutaneous abscess formation,... ORPHA:47
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Ambiguous genitalia, femal... ORPHA:91
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Pathologic fracture, Cirrhosis, Hepa... ORPHA:905
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Skin rash,... OMIM:612852
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... ORPHA:186
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lys... OMIM:278000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Short stature, Azoospermia OMIM:601076
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Lymphocytic interstitial ... ORPHA:133
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Disorder Of Bile Acid Synthesis
Rickets, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abno... ORPHA:79168
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Diffuse Alveolar Hemorrhage
Leukocytosis, Irregular septal thickening on pulmonary HRCT, Elevated circulating creatinine conc... ORPHA:90060
Leishmaniasis
Hepatomegaly, Pancytopenia, Leukopenia, Rhinitis, Lymphadenopathy, Anemia, Splenomegaly, Abnormal... ORPHA:507
Optic Atrophy 2
Optic atrophy OMIM:311050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Short stature, Decreased se... ORPHA:243
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Leukoencephalopathy, Emotional lability, Primary amenorrhea, Decreased circ... OMIM:603896
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Increased circu... ORPHA:540
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... ORPHA:79301
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Microcephaly, Azoospermia OMIM:241000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Amed Syndrome, Digenic
Short stature, Failure to thrive, Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus OMIM:619151
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Iron deficienc... OMIM:300752
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Growth delay, Short stature, Elevated circulating creatine kinase concentration, El... OMIM:614727
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Hodgkin lymphoma, Interstitial pneumonitis, Neutro... OMIM:615952
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Growth delay, Septo-optic dys... ORPHA:95494
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, El... OMIM:600785
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, B... OMIM:300853
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Tibial Hemimelia
Absent tibia OMIM:275220
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism, Microcephaly OMIM:618165
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Short stature, Reduced natural killer cell activity, Anemia, Splenomegaly, Reduc... OMIM:616050
Graft Versus Host Disease
Stomatitis, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Elevated circulating alkaline p... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density,... OMIM:109130
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Intrauterine growth retardation, Spontaneous abortion, Clitor... ORPHA:96181
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Infectious encephalitis, Neutropenia, Leukopenia, Hepatitis, Anemia, H... ORPHA:292
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Chronic otitis media, Lymphadenopathy, Bone marrow hy... ORPHA:3226
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Optic Atrophy 5
Optic atrophy OMIM:610708
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Recurrent pharyngitis, Thrombocytopenia,... ORPHA:108
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Polymyositis
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Arthritis, Elevat... ORPHA:732
Spastic Paraplegia 26, Autosomal Recessive
Emotional lability, Cerebral cortical atrophy, Decreased serum testosterone concentration OMIM:609195
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Secondary amenorrhea, Inappropriatel... OMIM:301033
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Elevated total serum tryptase, Leukemia, Ly... ORPHA:98850
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Short stature, Abnormality of the ly... ORPHA:229717
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Short stature, Bone marrow hypocellularity, Pulmonary fibrosis, Pancytopenia, Thrombo... OMIM:613989
Gaucher Disease Type 1
Hepatomegaly, Growth delay, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly,... ORPHA:77259
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density, Elevated ci... OMIM:239100
Hermansky-Pudlak Syndrome
Myopia, Abnormality of thrombocytes, Neutropenia, Ocular albinism, Amblyopia, Basal cell carcinom... ORPHA:79430
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Hodgkin lymphoma, Leukopenia, Carcinoma, Short stature, Intrauterine growth retar... OMIM:305000
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Bronchiectasis, Abnormal pulmonary interstitial morphology, Reticular pattern on ... ORPHA:2032
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Spermatogenic Failure 28