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Gene: Egr1 MGI:95295

Gene Summary

Name:

early growth response 1

Synonyms:

NGF1-A, Zfp-6, Krox-1, Krox24, A530045N19Rik, TIS8, Zif268, Krox-24, NGFI-A, Egr-1, NGFIA, Zenk, ETR103

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IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	1.70×10^-05
embryonic growth retardation	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
decreased body length	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	3.85×10^-05
abnormal optic disk morphology	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	2.55×10^-05
absent seminal vesicle	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
small uterus	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
female infertility	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal forebrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
short tibia	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	8.95×10^-06
abnormal neural tube closure	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal hindbrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
preweaning lethality, incomplete penetrance	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal embryo size	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal midbrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
male infertility	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00

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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	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
placenta	Ambiguous
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Immunophenotyping

Panel A FCS file(s)

6 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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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Histopathology

Images

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Gross Pathology and Tissue Collection

Images

18 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

4 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.

Human diseases associated with Egr1 (0 diseases)
Human diseases predicted to be associated with Egr1 (1556 diseases)

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	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Nondisjunction	Decreased fertility	OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
X-Linked Intellectual Disability, Van Esch Type	Absence of secondary sex characteristics, Retractile testis, Male hypogonadism, Hypergonadotropic...	ORPHA:163976
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
X-Linked Intellectual Disability, Cilliers Type	Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog...	ORPHA:163971
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina...	OMIM:300869
Spermatogenic Failure 17	Male infertility	OMIM:617214
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la...	ORPHA:179494
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
49,Xxxyy Syndrome	External genital hypoplasia, Low frustration tolerance, Abnormality of the testis size, Decreased...	ORPHA:261534
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Bdv Syndrome	Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo...	OMIM:619326
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:66628
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali...	ORPHA:261529
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh...	OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
49,Xyyyy Syndrome	External genital hypoplasia, Azoospermia, Low frustration tolerance, Abnormality of the testis si...	ORPHA:99330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D...	ORPHA:453533
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:301059
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci...	OMIM:300635
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A...	OMIM:618664
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Ovarian Dysgenesis 5	Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	OMIM:617690
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell...	OMIM:618643
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Delayed Puberty, Self-Limited	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619613
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce...	ORPHA:158061
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry...	OMIM:614840
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Spermatogenic Failure 10	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:614822
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Spermatogenic Failure 11	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla...	ORPHA:2232
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ...	OMIM:614129
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Anemia, Reticular pattern on pulmonary HRCT, Mediastinal lymphadenopa...	OMIM:614742
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
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop...	ORPHA:47612
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymph...	OMIM:613101
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamin...	OMIM:310490
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat...	ORPHA:158057
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ...	ORPHA:210136
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr...	OMIM:301099
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Ane Syndrome	Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo...	ORPHA:157954
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase...	OMIM:607765
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Spermatogenic Failure 64	Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti...	OMIM:619696
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Con...	OMIM:619232
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Aspergillosis	Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc...	ORPHA:1163
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Panhypophysitis	Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin...	ORPHA:95513
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-...	OMIM:606785
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma...	ORPHA:95512
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym...	ORPHA:79124
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h...	OMIM:202150
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Splenomegaly, Lymphopenia, Autoimmune thromb...	ORPHA:444463
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c...	OMIM:620651
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Emotional lability, Decreased testicular size, Short stature, Failure to thrive, Hy...	OMIM:201100
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis,...	ORPHA:79303
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:619802
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Hypercholanemia, Familial, 2	Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy...	OMIM:619256
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina...	OMIM:619644
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Elevated circulating...	OMIM:305400
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi...	ORPHA:1772
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Leukem...	OMIM:614743
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, ...	OMIM:615704
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, A...	ORPHA:77259
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory...	OMIM:614470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia, Pulmonary fibrosis	OMIM:620400
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Reduced bone mineral density, Cholelithiasis, Anem...	ORPHA:848
Spermatogenic Failure 78	Tapered sperm head, Male infertility, Microcephalic sperm head	OMIM:620170
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Short s...	ORPHA:247768
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Emphysema, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Ly...	OMIM:620365
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ...	ORPHA:8
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati...	OMIM:619510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:607080
Adrenal Hypoplasia, Congenital	Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of...	OMIM:300200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Morbid Obesity And Spermatogenic Failure	Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus	OMIM:615703
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Infertility, Hypothyroidism, Hypogonadotropic hypogonadis...	ORPHA:465508
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras...	OMIM:603552
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu...	OMIM:616829
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu...	ORPHA:3044
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil...	OMIM:178500
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, P...	OMIM:608233
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Spermatogenic Failure 5	Macrozoospermia, Male infertility, Multiflagellar spermatozoa	OMIM:243060
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Intrauterine growth re...	ORPHA:1980
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperpl...	ORPHA:60026
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I...	OMIM:615934
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hypertension, Oligomen...	ORPHA:280356
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero...	OMIM:619868
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Bronchiec...	ORPHA:60
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic tr...	OMIM:619013
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Spermatogenic Failure 86	Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Abnormal...	ORPHA:2959
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Spermatogenic Failure 38	Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m...	OMIM:618433
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of...	OMIM:127550
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Seckel Syndrome 7	Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation...	OMIM:614851
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly...	OMIM:612387
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Premature Ovarian Failure 15	Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E...	OMIM:618096
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Skin rash, Corneal opacity, Cataract, Short statu...	ORPHA:290
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:143500
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Short stature,...	ORPHA:3130
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad...	OMIM:146110
Myeloperoxidase Deficiency	Reduced neutrophil myeloperoxidase activity, Diminished neutrophil myeloperoxidase activity	OMIM:254600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619761
46,Xy Sex Reversal 1	Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara...	OMIM:400044
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho...	OMIM:613080
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Iron deficiency anemia, Pulmonary fibrosis	OMIM:178550
Premature Ovarian Failure 5	Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar...	OMIM:611548
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	OMIM:615486
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Autosomal Recessive Spastic Paraplegia Type 26	Premature ovarian insufficiency, Decreased serum testosterone concentration	ORPHA:101006
Gordon Holmes Syndrome	Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo...	OMIM:212840
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Cardiomegaly, Hepatosp...	ORPHA:99931
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:79126
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D...	ORPHA:90795
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Keratoconjunctivitis sicca...	ORPHA:809
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Recurrent lower respiratory tra...	OMIM:620603
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ...	OMIM:616828
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism	ORPHA:1643
Complement Component 4B Deficiency	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Meningioma	Impotence, Decreased circulating cortisol level, Abnormal hypothalamus physiology, Focal T2 hypoi...	ORPHA:2495
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:2137
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Leukocytos...	OMIM:618278
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepato...	ORPHA:858
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ...	ORPHA:133
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Thrombocytopenia, Elevated circulating hepatic transaminase conc...	OMIM:189800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:2229
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Growth delay, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Pustu...	OMIM:612852
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Recurrent lower respiratory tract infections, Neutr...	OMIM:615952
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit...	ORPHA:169160
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia, Pulmonary fibrosis, Elevated circulating creatinine conce...	ORPHA:90060
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Abnormality of the tonsils, Abn...	ORPHA:47
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated circulating creatine kinase concentration, Elevated serum transamin...	OMIM:611182
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis	OMIM:614962
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Short stature, Pure red cell ...	OMIM:618165
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Hypothyroidism, Female infertility, Goiter	OMIM:617577
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating...	OMIM:278000
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Polyembryoma	Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy...	ORPHA:180229
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactiv...	OMIM:620632
Ovarian Dysgenesis 4	Decreased body weight, Short stature, Elevated circulating follicle stimulating hormone level, Pr...	OMIM:616185
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Elevated circulating hepatic transaminase concentration, Chilblains, Hepatosple...	OMIM:610329
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Ne...	OMIM:226990
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	OMIM:614727
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Increa...	OMIM:615010
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries	ORPHA:2795
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Polycystic Ovary Syndrome 1	Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries	OMIM:184700
Mccune-Albright Syndrome	Decreased fertility, Pancreatitis, Increased serum testosterone level, Irregular menstruation, Ab...	ORPHA:562
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Osteo...	ORPHA:79301
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari...	ORPHA:91351
Graft Versus Host Disease	Limited elbow movement, Elevated circulating hepatic transaminase concentration, Inflammatory abn...	ORPHA:39812
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Short stature, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	OMIM:613989
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulat...	ORPHA:507
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin...	ORPHA:3411
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Tibial Hemimelia	Absent tibia	OMIM:275220
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Elevated circulating h...	ORPHA:540
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc...	ORPHA:294
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemia, Pancytope...	OMIM:613990
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, C...	ORPHA:355
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ...	ORPHA:33110
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Congenital Enterovirus Infection	Myocarditis, Neutropenia, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocy...	ORPHA:292
Amed Syndrome, Digenic	Short stature, Failure to thrive, Adrenal hypoplasia, Hypoplasia of the uterus	OMIM:619151
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
46,Xx Gonadal Dysgenesis	Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas...	ORPHA:243
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Bone marrow hypocellularity, Leukopenia,...	OMIM:305000
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ...	ORPHA:101330
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating hepatic...	ORPHA:829
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Visual loss, Abnormal neutrophil count, Lymph...	ORPHA:3226
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Babesiosis	Hepatomegaly, Jaundice, Recurrent pharyngitis, Photophobia, Leukopenia, Splenomegaly, Thrombocyto...	ORPHA:108
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthe...	ORPHA:98850
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increas...	OMIM:613313
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Elevated circulating creatine kinase concentration, Bronchiolitis, Increased circula...	ORPHA:254361
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte...	ORPHA:229717
Polymyositis	Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating aldolase concentra...	ORPHA:732
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop...	OMIM:110100
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Astigmatism, Photophobia, Ocular albinism, Squamous cell carcinoma of the s...	ORPHA:79430
Avian Influenza	Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circulating C-reactiv...	ORPHA:454836
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Satoyoshi Syndrome	Short stature, Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Tularemia	Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly...	ORPHA:3392
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno...	OMIM:147480
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Acromesomelic Dysplasia 3	Disproportionate short-limb short stature, Hypergonadotropic hypogonadism, Elevated circulating f...	OMIM:609441
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cel...	OMIM:304790
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 40	Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media,...	OMIM:616433
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Increased ...	OMIM:604250
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase c...	ORPHA:369
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El...	OMIM:300068
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Dysgammaglobulinemia, Decreased circulating Ig...	OMIM:308230
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:620357
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Biliary cirrhosis, Splenomegaly, Abnormal intrahepatic ...	ORPHA:186
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a...	ORPHA:2585
Ovarian Dysgenesis 8	Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati...	OMIM:618187
Hemochromatosis, Type 2A	Congestive heart failure, Azoospermia, Infertility, Cardiomyopathy, Arrhythmia, Amenorrhea, Dilat...	OMIM:602390
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Niemann-Pick Disease, Type C2	Jaundice, Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Low cholesterol esterific...	OMIM:607625
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Riddle Syndrome	Short stature, Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo...	OMIM:240500
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso...	ORPHA:1501
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m...	ORPHA:98826
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Elevated...	ORPHA:81
Spastic Paraplegia 26, Autosomal Recessive	Emotional lability, Decreased serum testosterone concentration	OMIM:609195
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal conjunct...	ORPHA:797
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentrat...	OMIM:610377
Temple Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Precocious p...	ORPHA:254516
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d...	ORPHA:79106
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ...	ORPHA:2032
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Eczematoid dermatitis, Short stature, B...	OMIM:618116
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c...	OMIM:239100
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Panhypogammaglobulinemia...	ORPHA:572
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma,...	OMIM:230800
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Ocular albinism, Reduced visual acuity, Pulmonary fibrosis	OMIM:614073
Cortisone Reductase Deficiency 1	Precocious puberty, Oligomenorrhea, Infertility	OMIM:604931
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre...	OMIM:615207
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Increased circulating IgG level, Nephritis, Autoimmune thrombocytopenia, Autoimmune...	OMIM:603909
Pituitary Adenoma 1, Multiple Types	Increased circulating insulin-like growth factor 1 concentration, Hypertension, Pituitary growth ...	OMIM:102200
Premature Ovarian Failure 11	Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:620312
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas...	ORPHA:2302
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Thyroiditis,...	ORPHA:139402
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Familial Glucocorticoid Deficiency	Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio...	ORPHA:361
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Decreased testicular size, Growth delay, Thrombocytopenia, Developmental ca...	OMIM:601815
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Pterygium, Bone marrow hypocellularity, Thrombocytopenia, Pulmonar...	OMIM:224230
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ...	ORPHA:381
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,...	OMIM:209950
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop...	OMIM:300755
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad...	OMIM:612702
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatospleno...	OMIM:610333
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Lymphoma, Ascites, Gro...	ORPHA:100025
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi...	ORPHA:786
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Splenomegaly, Enlarged lacrimal glands, Pancytopenia, Eleva...	OMIM:181000
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Fusariosis	Sinusitis, Granuloma, Lymphopenia, Neutropenia, Hypersensitivity pneumonitis, Pneumonia, Osteomye...	ORPHA:228119
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Lead Poisoning	Delayed puberty, Decreased male libido, Depression, Infertility, Oligozoospermia, Reduced sperm m...	ORPHA:330015
Overlap Myositis	Abnormal circulating lipid concentration, Abnormal pulmonary interstitial morphology, Elevated ci...	ORPHA:206572
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h...	OMIM:616113
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnormal blood ion concent...	ORPHA:37042
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	OMIM:603553
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci...	ORPHA:289390
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Secondary amenorrhea, Primary amenorrhea	OMIM:620314
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea...	OMIM:620282
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Primary amenorrhea...	OMIM:610628
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-...	ORPHA:79085
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Recurrent low...	ORPHA:169154
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Male infertility, Depression, Secondary amenorr...	ORPHA:79239
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Intrauterine growth r...	ORPHA:96181
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler...	OMIM:619662
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hypergonadotropic hypogonadism, Short stature, Abnormality of the hypothalamus-pitui...	ORPHA:2183
Premature Ovarian Failure 17	Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul...	OMIM:619146
Premature Ovarian Failure 16	Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat...	OMIM:618723
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Immunodeficiency 13	Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph...	OMIM:615518
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, ...	OMIM:618963
Immunodeficiency 46	Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop...	OMIM:616740
Frasier Syndrome	Ambiguous genitalia, male, Hypertension, Hypergonadotropic hypogonadism, Male pseudohermaphroditi...	ORPHA:347
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,...	OMIM:600081
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis	OMIM:614880
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme...	OMIM:245480
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ...	ORPHA:50918
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Sarcoma, Thrombo...	ORPHA:69077
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cog4-Cdg	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Growth ...	ORPHA:263501
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I...	ORPHA:36234
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618014
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Visual loss, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Fetal Parvovirus Syndrome	Anemia, Abnormality of vision, Ascites, Thrombocytopenia, Intrauterine growth retardation	ORPHA:295
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,...	ORPHA:169079
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Visceral he...	ORPHA:141179
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Increased ci...	ORPHA:37748
Hereditary Mucoepithelial Dysplasia	Photophobia, Corneal dystrophy, Pulmonary fibrosis, Cataract, Recurrent respiratory infections	ORPHA:1839
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Postnatal growth retardation, Anemia, Short stature, Bone marrow hypocellularity, Thrombocytopeni...	OMIM:612199
Diffuse Neonatal Hemangiomatosis	Hemangiomatosis, Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hypercalcemia, Visceral angioma...	ORPHA:2123
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Glabellar hemangioma, Hypermetropia, Atopi...	OMIM:618624
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Recurrent otit...	OMIM:614921
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Decreased circulating total IgM, Short stature, Decre...	OMIM:620210
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen...	OMIM:608898
Sitosterolemia 1	Corneal arcus, Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobi...	OMIM:210250
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc...	OMIM:267700
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Amenorrhea	OMIM:619425
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrati...	OMIM:617591
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia...	ORPHA:2072
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Multiple pulmonary cysts, ...	ORPHA:79128
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Brucellosis	Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc...	ORPHA:1304
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Atelis Syndrome 1	Anemia, Cataract, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis, Glue ear	OMIM:620184
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Visceral he...	ORPHA:141184
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Eczematoid dermatitis, Prolonged neon...	OMIM:170100
Typhoid	Abnormal pulmonary interstitial morphology, Hepatomegaly, Skin rash, Splenomegaly, Infectious enc...	ORPHA:99745
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,...	OMIM:614732
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Craniofacial Microsomia 2	Dermal sinus tract	OMIM:620444
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Bare Lymphocyte Syndrome, Type Ii	Neutropenia, Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Viral hepa...	OMIM:209920
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Abnormal circulating lactate dehydrogenase concentration, Microangiopathic hemo...	ORPHA:2134
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Pancreatitis, Growth delay, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Hypertension, Oligomenorrhea, Type II diabetes mellitus, Pri...	OMIM:604367
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
Specific Granule Deficiency 2	Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil specific...	OMIM:617475
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor...	ORPHA:273
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Short stature, Growth del...	OMIM:615866
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia	OMIM:238970
Relapsing Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulating C...	ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul...	OMIM:614576
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter, Reduced visual acuity, Pulmonary fibrosis	OMIM:617175
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo...	ORPHA:158048
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Cinca Syndrome	Abnormality of neutrophils, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1451
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil...	OMIM:615962
Tafro Syndrome	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r...	ORPHA:457077
Forsythe-Wakeling Syndrome	Growth delay, Thrombocytopenia, Short stature	OMIM:613606
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Increased circulating interleukin 6 c...	OMIM:614034
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Photophobia, Increased ...	ORPHA:83313
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Splenic...	ORPHA:31202
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot...	ORPHA:280679
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:457240
Immunodeficiency 47	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:300972
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci...	OMIM:300845
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Photophobia, Anemia, Periodontitis, Lymphadenopathy, Oc...	OMIM:214500
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminas...	ORPHA:221
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar...	ORPHA:1106
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art...	ORPHA:449280
Erdheim-Chester Disease	Xanthelasma, Abnormal pulmonary interstitial morphology, Anemia, Skin rash, Pleural effusion, Vis...	ORPHA:35687
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Al Amyloidosis	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating NT-proBNP...	ORPHA:85443
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancre...	OMIM:610199
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Abnormal circulating calcium ...	OMIM:241530
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Decreased beta-glucocerebrosidase level, Thrombocytope...	OMIM:231000
Slc35A2-Cdg	Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod...	ORPHA:356961
Granulomatosis With Polyangiitis	Chronic otitis media, Prostatitis, Pancreatitis, Elevated circulating C-reactive protein concentr...	ORPHA:900
Preeclampsia	Pulmonary edema, Elevated circulating hepatic transaminase concentration, Abnormality of vision, ...	ORPHA:275555
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis	OMIM:618913
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Pulmonic stenosis, Hypoplasia o...	ORPHA:3109
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Short stature, Bone marrow hypocellularity, Thrombo...	OMIM:616435
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Arthritis, Bronchitis, C...	ORPHA:420741
Farber Disease	Elevated circulating hepatic transaminase concentration, Anemia, Atelectasis, Abnormal circulatin...	ORPHA:333
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Decreased response to growth hormone stimulation test, Atelectasis, Elevated bronchoalveolar lava...	OMIM:610978
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib...	OMIM:619484
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Short stature, Azoospermia	ORPHA:2578
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary am...	OMIM:202110
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intrauterine growth retardation,...	OMIM:620376
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-...	ORPHA:435651
Reticular Dysgenesis	Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Aplasi...	ORPHA:33355
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit...	OMIM:615925
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo...	ORPHA:1359
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog...	OMIM:620366
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Transaldolase Deficiency	Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen...	ORPHA:101028
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Chronic hepatitis, Decreased circulating iron concentration, Colitis	OMIM:614602
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Systemic Lupus Erythematosus 17	Myelitis, Malar rash, Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune throm...	OMIM:301080
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Astigmatism, Hypermetropia...	OMIM:301056
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Intrauter...	OMIM:608104
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231226
Myh9-Related Disease	Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate...	ORPHA:182050
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui...	ORPHA:478
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:150550
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Maturity-onset diabetes of the young, Precocious puberty, Obesity, ...	ORPHA:254531
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia	ORPHA:27
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ...	ORPHA:1667
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired arachidonic acid-induced platelet aggregation, Iris tran...	OMIM:614075
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Anemia, Decreased circulating...	OMIM:612301
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Sp...	ORPHA:169090
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Azoospermia, Hypoplasia of penis, Infertility, Decreased ...	ORPHA:96263
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Ovarian Hyperstimulation Syndrome	Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria...	ORPHA:64739
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Normocytic anemia, Elevated circulating hepatic tra...	ORPHA:398063
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu...	OMIM:615160
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio...	ORPHA:440713
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Hepatomegaly, Ocular albinism, Splenomegaly, Recurren...	OMIM:617050
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal ...	ORPHA:397590
Robinow Syndrome	External genital hypoplasia, Clitoral hypoplasia, Decreased serum testosterone concentration, Sho...	ORPHA:97360
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Pericarditis, Hyponatremia, Endocarditis, Splenomegaly, Lymp...	ORPHA:549
Propionic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Propionyl-CoA carboxylase deficiency, Eczematoi...	OMIM:606054
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Hepatomegaly, Recurrent otitis media, Atelectasis, Re...	OMIM:620233
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t...	OMIM:607143
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ...	OMIM:609981
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Elevated alkaline phosphatase of bone origin, Hepatomegaly, Hypocalcemic seizures, Delay...	ORPHA:289157
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Braddock Syndrome	Intrauterine growth retardation, Short stature, Pulmonary fibrosis	ORPHA:52047
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly, Visual impai...	OMIM:611490
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas...	OMIM:603554
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulat...	ORPHA:54251
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti...	ORPHA:228426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Emphyse...	ORPHA:1572
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit...	OMIM:614493
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Hemochromatosis, Type 1	Congestive heart failure, Azoospermia, Cardiomyopathy, Impotence, Diabetes mellitus, Arrhythmia, ...	OMIM:235200
Schimke Immuno-Osseous Dysplasia	Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cataract, Osteoarthritis, Elevated transferrin saturation, Incre...	OMIM:606069
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h...	OMIM:307200
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Sinusitis, ...	ORPHA:2686
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocy...	ORPHA:508542
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia, Short stature	OMIM:617914
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi...	OMIM:617021
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:619310
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red...	OMIM:619381
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Hodgkin lymphoma, Lymphopenia, Intrauterine growth re...	OMIM:619573
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Ovarian cyst, Epistaxis, Intracranial...	ORPHA:327
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Neutrophilic infiltration...	OMIM:618048
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Wilson Disease	Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, J...	OMIM:277900
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Pituitary Gigantism	Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Pituitary g...	ORPHA:99725
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Myotonic Dystrophy 2	Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev...	OMIM:602668
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med...	OMIM:612783
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy...	OMIM:616576
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyper...	OMIM:259720
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Short stature, Cryptorchidism, Testicular atrophy	ORPHA:3063
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration, Osteopenia, Autoimmune hemolytic anemia, Thy...	ORPHA:391487
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Conjunctival icterus, Leukopenia, Abnorm...	ORPHA:480520
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia	OMIM:252270
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ...	OMIM:264700
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, S...	ORPHA:769
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Blindness, Increased circulating lactate dehydr...	OMIM:259700
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Clitoral hypoplasia, Short stature, Elevated circulating follicle stimulating...	OMIM:618419
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l...	ORPHA:435660
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Recurrent bronchopulmona...	OMIM:617303
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Glutamate Formiminotransferase Deficiency	Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlor...	OMIM:229100
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Hepatomegaly, Pancytopenia, Portal hypertension, Camptodactyly, Hashimot...	OMIM:613385
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Astigmatism, Hypermetro...	OMIM:617052
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Rickets...	ORPHA:289176
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Skin rash, Thrombocytopenia, Neoplasm, Hep...	ORPHA:49566
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Failure to thrive, Female infertility, Mitochondr...	OMIM:619518
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple...	OMIM:606003
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl...	OMIM:619523
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Leukopenia, Thrombocytopenia, Lymphopen...	ORPHA:319218
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Photophobia, Elevated circ...	OMIM:617388
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit...	OMIM:618160
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:54057
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri...	ORPHA:183675
Culler-Jones Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Short stature, Hypogonadism, Hypopituitarism, ...	OMIM:615849
Sengers Syndrome	Cataract, Growth delay, Developmental cataract, Thrombocytopenia, Myopia	OMIM:212350
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Decreased fertility, Abnormality of retinal pigmentation, Hypogonadism, Supernumer...	ORPHA:1173
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Elevated total serum tryptase, Myeloproliferative d...	ORPHA:79456
Acute Lung Injury	Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase...	ORPHA:178320
Congenital Generalized Lipodystrophy	Congestive heart failure, Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, ...	ORPHA:528
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circ...	ORPHA:77261
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone...	OMIM:300554
Meckel Syndrome 12	Intrauterine growth retardation, Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, D...	ORPHA:495875
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Methylmalonic acidemia, Normochromic anemia, Hyperhomocys...	OMIM:614857
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Maternal diabetes, Secondary amenorrhea, Hypertension, Hypertrophic car...	ORPHA:79083
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Hashimoto...	ORPHA:199299
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Premature ov...	ORPHA:96179
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Abnor...	OMIM:618752
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid...	OMIM:260400
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low...	ORPHA:314795
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis...	ORPHA:91347
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Vitamin D-Dependent Rickets, Type 2A	Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone tr...	OMIM:277440
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Increased circulating lactate dehydrogenase con...	OMIM:613673
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir...	ORPHA:400
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, In...	OMIM:613839
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Lymphade...	OMIM:616100
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r...	OMIM:607115
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Increase...	ORPHA:514
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Refractory anemia with ringed sideroblasts, Bone marr...	ORPHA:318
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Abnormal immunoglobulin level, Pancytopenia, Dec...	OMIM:242900
Sea-Blue Histiocytosis	Hepatomegaly, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc...	ORPHA:448237
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc...	OMIM:243150
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis	OMIM:616744
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Elevated circula...	OMIM:613658
Dyskeratosis Congenita	Cirrhosis, Hepatomegaly, Anemia, Neoplasm of the pancreas, Periodontitis, Lymphoma, Abnormal test...	ORPHA:1775
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Hermansky-Pudlak Syndrome 1	Photophobia, Ocular albinism, Inflammation of the large intestine, Pulmonary fibrosis, Severely r...	OMIM:203300
Shigellosis	Myocarditis, Abnormal blood ion concentration, Corneal ulceration, Acute colitis, Arthritis, Sple...	ORPHA:810
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	ORPHA:470
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Blindness, Neutropenia	OMIM:598500
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro...	ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Immune-Mediated Necrotizing Myopathy	Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Skin rash, Elevated circulatin...	ORPHA:206569
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen...	OMIM:620005
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Premature pubarche, Sensory axonal neuropathy...	ORPHA:457205
Mucopolysaccharidosis Type 7	Joint stiffness, Hepatitis, Splenomegaly, Epiphyseal stippling	ORPHA:584
Mirage Syndrome	Hyperkalemia, Anemia, Aspiration pneumonia, Decreased testicular size, Hyponatremia, Short statur...	OMIM:617053
Silver-Russell Syndrome 3	Postnatal growth retardation, Penoscrotal hypospadias, Decreased body weight, Unilateral cryptorc...	OMIM:616489
Pediatric-Onset Graves Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropenia in p...	ORPHA:525731
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting...	ORPHA:2298
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Systemic Sclerosis	Myocarditis, Abnormal pulmonary interstitial morphology, Arthritis, Barrett esophagus, Elevated c...	ORPHA:90291
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Anemia, Ascites, Hyponatremia, Thrombocy...	ORPHA:79325
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopeni...	OMIM:277380
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, Recurrent lower respi...	OMIM:612541
Cryoglobulinemic Vasculitis	Hepatomegaly, Arthritis, Viral hepatitis, Splenomegaly, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Kawasaki Disease	Myocarditis, Cheilitis, Jaundice, Abnormal pulmonary interstitial morphology, Recurrent pharyngit...	ORPHA:2331
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Decreased circulating total IgM, Anemia, Intestinal lymphangiectasia, Decrea...	ORPHA:90362
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Pleural thickening, Bronchitis, Testicular microlithiasis, Increased ...	ORPHA:60025
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F...	OMIM:616300
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,...	ORPHA:39041
Lig4 Syndrome	Astigmatism, Recurrent respiratory infections, Pancytopenia, Chronic sinusitis, Acute lymphoblast...	OMIM:606593
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Cryptorchidism, Short stature, Thrombocy...	OMIM:600901
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Hepatomegaly, Anemia, Neoplasm of the pancreas, Ovarian n...	ORPHA:83469
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat...	OMIM:169400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Increa...	OMIM:185070
Tufted Angioma	Anemia, Neoplasm of the skin, Hemangioma of the lip, Thrombocytopenia, Facial hemangioma	ORPHA:1063
Whim Syndrome	Neutropenia, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, ...	ORPHA:51636
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ...	OMIM:615688
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor	OMIM:616389
Thiamine-Responsive Megaloblastic Anemia Syndrome	Visual loss, Short stature, Sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Thiamine-resp...	OMIM:249270
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia, Visual loss, Short stature	ORPHA:49827
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Photophobia, Pancreatitis, Corne...	ORPHA:36426
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Thrombocytopenia, Eczematoid dermatitis	OMIM:619751
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Oste...	OMIM:614172
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the ovary	ORPHA:543
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Cryptorchidism, Short stature, Bone marr...	OMIM:227645
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Elevated circulating c...	ORPHA:231111
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocyt...	OMIM:259710
Retinitis Pigmentosa 26	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor	OMIM:608380
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat...	ORPHA:3202
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Cryptorchidism, Short stature, Thrombocy...	OMIM:227650
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre...	OMIM:137920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Rhizomelia, Oligozoospermia, Clitoral hypoplasia, Growth delay, Failure to thr...	OMIM:614813
Wiskott-Aldrich Syndrome	Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho...	ORPHA:906
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Craniopharyngioma	Delayed puberty, Enlarged pituitary gland, Central diabetes insipidus, Postnatal growth retardati...	ORPHA:54595
Sheehan Syndrome	Breast hypoplasia, Central diabetes insipidus, Amenorrhea, Reduced circulating prolactin concentr...	ORPHA:91355
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Ple...	ORPHA:93552
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Panniculitis, Decreased circulating IgE, Recurrent lower respir...	OMIM:615758
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Refractory si...	OMIM:557000
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Zonular cataract, Growth delay, Recurrent pneumonia, Thrombocytopenia, Leukopenia, Ca...	OMIM:616271
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Increased circulating cortisol level, C...	ORPHA:97287
Lipodystrophy, Familial Partial, Type 5	Decreased serum leptin, Hypertension, Decreased adiponectin level, Diabetic ketoacidosis, Irregul...	OMIM:615238
Lichen Planopilaris	Hepatitis	ORPHA:525
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev...	OMIM:615381
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ...	ORPHA:98813
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Chronic hemolytic...	OMIM:266200
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Short stature,...	OMIM:225750
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Decreased proportion of naive T cell...	ORPHA:83471
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple...	OMIM:269200
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Microphthalmia, Syndromic 9	Bicornuate uterus, Short stature, Severe short stature, Intrauterine growth retardation, Cryptorc...	OMIM:601186
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro...	ORPHA:699
Sepsis In Premature Infants	Decreased liver function, Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein...	ORPHA:90051
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut...	ORPHA:1908
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613280
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Gapo Syndrome	Oligozoospermia, Short stature, Growth delay, Dysmenorrhea, Hypogonadism, Amenorrhea	ORPHA:2067
Congenital Syphilis	Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Cataract, Synovitis, Prolonged neonatal jaund...	ORPHA:499009
Fanconi Anemia, Complementation Group V	Anemia, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-...	OMIM:617243
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Macrocytic...	OMIM:224120
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Visual loss, Photophobia, Anemia, Pancre...	ORPHA:537
Peutz-Jeghers Syndrome	Esophageal neoplasm, Abnormality of the gallbladder, Anemia, Pancreatic adenocarcinoma, Neoplasm ...	ORPHA:2869
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Pleural...	ORPHA:464329
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Pulmonary artery atresia, Ascites, Portal hypertension, Thrombocytopen...	ORPHA:974
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia,...	OMIM:251000
Congenital Disorder Of Glycosylation, Type Iiq	Elevated circulating hepatic transaminase concentration, Decreased circulating ceruloplasmin conc...	OMIM:617395
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevat...	ORPHA:264580
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Hypoparathyroidism, Short stature, Growth delay, Recu...	ORPHA:209905
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Hypochromic anemia, Anisocytosis, Macrothrombocy...	ORPHA:67044
Dengue Fever	Hepatomegaly, Skin rash, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia	ORPHA:99828
Vexas Syndrome	Nasal chondritis, Macrocytic anemia, Arteritis, Elevated circulating C-reactive protein concentra...	OMIM:301054
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:415
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Isovaleric Acidemia	Pancytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Reduced isovaleryl CoA d...	OMIM:243500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, P...	OMIM:618398
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Hypersegmentation of neutrophil nuclei, Visual impairment, Macro...	OMIM:615578
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Decreased body weight, Short stature, Elevated circulating growth h...	OMIM:608747
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc...	OMIM:619902
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Pure red cell aplasia, Hepatitis, Hemolyti...	ORPHA:589
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage...	OMIM:603585
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:256040
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit...	OMIM:258315
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ...	ORPHA:723
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Short stature, Bone marrow hypocellularity, Thrombocytopen...	ORPHA:3322
Sweet Syndrome	Pustule, Neoplasm, Abnormality of tumor necrosis factor secretion, Increased circulating interleu...	ORPHA:3243
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains	OMIM:612952
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reacti...	ORPHA:247353
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
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
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf...	OMIM:615846
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Atelectasis, Photophobia, E...	ORPHA:319213
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulating ...	ORPHA:319251
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Microsporidiosis	Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia...	ORPHA:2552
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Elevated c...	ORPHA:79240
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Letterer-Siwe Disease	Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutro...	OMIM:246400
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chordee, Micropenis, A...	OMIM:309801
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Hyperammonemia,...	OMIM:617049
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Hyp...	OMIM:616026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG...	OMIM:102700
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Squamous cell carc...	ORPHA:79277
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Increased hepatic glycogen content, Growth delay, Elevated hepatic iron concentration, Co...	OMIM:614946
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Recurrent lower respiratory tract infections, Intes...	OMIM:226300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Short stature, Thrombocytopenia, Cerebral visual impairment, Visual impairment	OMIM:616577
Juvenile Dermatomyositis	Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash...	ORPHA:93672
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Sh...	OMIM:222700
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocytopenia, Di...	ORPHA:520
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin, Neutropenia, Elevated circulating C-reactive protein concent...	OMIM:620443
Dent Disease 1	Rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Osteomalacia,...	OMIM:300009
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf...	OMIM:301000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Dis...	OMIM:301110
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Decreased methylmalonyl-CoA mutase act...	OMIM:251110
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Diamond-Blackfan Anemia	Developmental glaucoma, Normochromic anemia, Macrocytic dyserythropoietic anemia, Malignant genit...	ORPHA:124
Cirrhosis, Familial	Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Biliary c...	OMIM:215600
Wolfram Syndrome 1	Diabetes insipidus, Hypothyroidism, Growth delay, Diabetes mellitus, Testicular atrophy	OMIM:222300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, H...	OMIM:615895
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Cataract, Interstitial pneum...	ORPHA:454831
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Decreased t...	ORPHA:300298
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Growth delay, Splenomegaly, H...	ORPHA:75233
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Depression, Thyroiditis, Seco...	ORPHA:99413
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Mosaic Monosomy X	Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Depression, Thyroiditis, Seco...	ORPHA:99228
Monosomy X	Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Depression, Thyroiditis, Seco...	ORPHA:99226
Turner Syndrome	Delayed puberty, Intrauterine growth retardation, Hyperinsulinemia, Depression, Thyroiditis, Seco...	ORPHA:881
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Jaundice, Pancreatitis, Anemia, Neoplasm of the pancreas, Ovarian...	ORPHA:370348
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin...	ORPHA:79140
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperam...	OMIM:616483
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pleural effusion, Elev...	ORPHA:330001
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Azoospermia, Severe postnatal growth retardati...	ORPHA:125
Lathosterolosis	Anisopoikilocytosis, Hepatomegaly, Intrahepatic cholestasis, Microcornea, Abnormal platelet morph...	ORPHA:46059
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Arthritis, Skin rash, Autoimmune thrombocytopenia, Gra...	ORPHA:1855
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Recurrent skin infections, Ocular al...	OMIM:614171
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Recurrent pharyngitis, Partial absence o...	ORPHA:79324
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop...	OMIM:242150
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Con...	ORPHA:67
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Hyposegmentation of neutrophil nuclei, Short stature, Growth delay, ...	ORPHA:250999
Reactive Arthritis	Recurrent aphthous stomatitis, Photophobia, Arthritis, Pericarditis, Pustule, Inflammation of the...	ORPHA:29207
Fanconi Anemia, Complementation Group D2	Microphthalmia, Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Cryptorchidism, Short ...	OMIM:227646
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Pulmonary hypo...	OMIM:608013
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Pulmonary fibrosis	ORPHA:220393
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleural effusion, Ascites,...	OMIM:617397
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia, Goiter	ORPHA:83601
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Recurrent otitis media, Dysgammaglobulinemia, B ly...	OMIM:251260
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Testicular atrophy	OMIM:613987
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu...	ORPHA:91139
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, ...	OMIM:618886
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo...	OMIM:616170
Zygomycosis	Myocarditis, Fasciitis, Pancreatitis, Gastritis, Neutropenia, Acute infectious pneumonia, Splenic...	ORPHA:73263
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Anemia, Squamous cell carcinoma of the skin, Melanoma, Decreased testicular...	OMIM:620040
Hereditary Folate Malabsorption	Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop...	ORPHA:90045
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Elevated circulating hepatic transami...	OMIM:212750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Photophobia, Hypermetropia, Decreased circulating antibody level, Squamous cell carcinoma...	ORPHA:79396
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Neonatal death, Optic disc pallor	OMIM:613730
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,...	OMIM:619991
Neuroblastoma	Anemia, Lymphadenopathy, Neoplasm of the nervous system, Abdominal mass, Increased circulating la...	ORPHA:635
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Anemia, Short stature, Bon...	OMIM:603467
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancyt...	OMIM:251100
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:615506
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Wagro Syndrome	Hypoplastic female external genitalia, Emotional lability, Low frustration tolerance, Decreased t...	OMIM:612469
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio...	ORPHA:90301
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ...	OMIM:618849
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, High myopia, Short stature...	OMIM:617941
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, A...	ORPHA:98870
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Crimean-Congo Hemorrhagic Fever	Ascites, Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Ery...	ORPHA:99827
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Cryptococcosis	Cirrhosis, Pneumonia, Prostatitis, Mediastinal lymphadenopathy, Abnormality of vision, Pleural ef...	ORPHA:1546
Stt3B-Cdg	Small scrotum, Optic atrophy, Cryptorchidism, Micropenis	ORPHA:370924
Holocarboxylase Synthetase Deficiency	Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Growth delay, Hyperammonemia, Throm...	ORPHA:79242
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Lipoid pneumonia, Elevated circulating creatine kinase concentra...	OMIM:620326
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Anemia, Astigmatism, Pancytopenia, Hypermetropia, Short stature, Leukopen...	OMIM:620654
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Postinfectious Vasculitis	Gastrointestinal inflammation, Increased circulating antibody level, Elevated circulating C-react...	ORPHA:48435
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Capillary hemangioma, Neoplasm of the skin, Tufted angioma, Abnormal ...	ORPHA:2330
Mogs-Cdg	Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG le...	ORPHA:79330
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sk...	ORPHA:99826
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Cholelithiasis, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Castleman Disease	Jaundice, Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react...	ORPHA:160
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Bardet-Biedl Syndrome 1	Hypertension, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size...	OMIM:209900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Achromatopsia, Hypermetropia, Hyposegmentation of neutrophil nuclei...	OMIM:614800
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Optic atrophy, Cryptorchidism, Micropenis	OMIM:615597
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ...	ORPHA:99818
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni...	OMIM:613845
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Calcinosis, Reduced bone mineral density, Neutropenia, Anemia, Malar...	ORPHA:2909
Epidermodysplasia Verruciformis, Susceptibility To, 5	Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia	OMIM:618309
Abetalipoproteinemia	Color vision defect, Decreased HDL cholesterol concentration, Elevated circulating hepatic transa...	ORPHA:14
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Corneal scarring, Short stature, Elevated circulating uro...	OMIM:263700
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Alport Syndrome 1, X-Linked	Lenticonus, Hypoparathyroidism, Corneal erosion, Nephritis, Thrombocytopenia, Developmental catar...	OMIM:301050
Blue Rubber Bleb Nevus	Iron deficiency anemia, Cerebellar medulloblastoma, Hemangioma, Thrombocytopenia, Abnormality of ...	OMIM:112200
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Pleural effusion, Lymphoma, Splenomegaly, Monoc...	ORPHA:33226
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia, Neuroblastoma, Hematological neoplasm	OMIM:173420
Neuroleptic Malignant Syndrome	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypocalcemi...	ORPHA:94093
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Iron deficiency anemia, Thro...	OMIM:301074
Dubowitz Syndrome	Postnatal growth retardation, Anemia, Hypoparathyroidism, Lymphoma, Cataract, Eczematoid dermatit...	ORPHA:235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropic hypogonadism...	OMIM:157640
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Thrombocytopenia, Elevated circulating hepatic transaminase con...	OMIM:611126
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,...	ORPHA:91350
Thyrocerebroretinal Syndrome	Goiter, Nephritis, Thrombocytopenia	OMIM:274240
Dent Disease	Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Spa...	ORPHA:1652
Congenital Disorder Of Glycosylation, Type Iig	Postnatal growth retardation, Giant platelets, Anemia, Rhizomelia, Short stature, Thrombocytopeni...	OMIM:611209
Down Syndrome	Delayed puberty, Keratoconus, Abnormality of the lymphatic system, Cataract, Short stature, Acute...	ORPHA:870
Chitayat Syndrome	Short stature, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat...	ORPHA:297
Hereditary Elliptocytosis	Postnatal growth retardation, Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poik...	ORPHA:288
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Eczematoid dermatitis, Impaired ADP-induced platelet aggregation, ...	OMIM:617443
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Cerebral visual impairment, Ascites, Aspiration pneumonia, S...	OMIM:301072
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta...	ORPHA:131
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Hsd10 Disease	Postnatal growth retardation, Abnormal social behavior	ORPHA:391417
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Atopic dermatitis, Growth delay, Thrombocytopenia, Increased circu...	ORPHA:3240
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Abnormal social behavior	ORPHA:444002
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Mediastinal lymphadenopathy, Inflammatory abnormality of the eye, Ec...	ORPHA:379
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Subc...	ORPHA:98907
Alg6-Cdg	Increased circulating androgen concentration, Failure to thrive, Puberty and gonadal disorders	ORPHA:79320
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hyperkalemia, Pancreatitis, Increased circulating interleukin 6 concentration, Pleur...	ORPHA:544482
Relapsing Polychondritis	Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Limit...	ORPHA:728
Occipital Horn Syndrome	Rickets, Osteopenia, Jaundice, Cholestasis, Esophagitis, Osteoporosis, Synostosis of joints, Oste...	ORPHA:198
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt...	OMIM:274150
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Decreased circulating T4 concentration, In...	ORPHA:64
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased ...	ORPHA:505248
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Cholelithiasis, Chronic active hepatitis, Chronic mucocutaneous candidi...	OMIM:240300
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma, Short stature	ORPHA:2760
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Hellp Syndrome	Pulmonary edema, Elevated circulating hepatic transaminase concentration, Decreased mean corpuscu...	ORPHA:244242
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly	OMIM:230900
Glycogen Storage Disease Ib	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hyperuricemi...	OMIM:232220
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Thrombocytopenia, Amblyopia	OMIM:617710
Bloom Syndrome	Postnatal growth retardation, Squamous cell carcinoma, Malar rash, Lymphoma, Cryptorchidism, Grow...	OMIM:210900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Severe postnatal growth retardation, Aplasia of the uterus, Uterus didelphys,...	ORPHA:2237
Chronic Mucocutaneous Candidiasis	Cheilitis, Hepatitis, Skin rash	ORPHA:1334
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly...	OMIM:277400
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Anemia, Increased circulating ant...	ORPHA:284
Smith-Kingsmore Syndrome	Rhizomelia, Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism	OMIM:616638
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration...	OMIM:615517
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anem...	OMIM:619418
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Acute colitis, Leukocytosis, Reticulocytosis, Increased circulating la...	ORPHA:90038
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Astigmatism, Increased mean corpuscular volume, Thrombocytopenia, Myopia, C...	ORPHA:261250
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Leptospirosis	Jaundice, Hepatomegaly, Optic neuritis, Skin rash, Pericarditis, Thrombocytopenia, Elevated serum...	ORPHA:509
Icf Syndrome	Anemia, Decreased circulating antibody level, Short stature, Lymphopenia, Recurrent respiratory i...	ORPHA:2268
Caffey Disease	Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones	OMIM:114000
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Lymphoma, Glioma,...	ORPHA:647
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Catastrophic Antiphospholipid Syndrome	Myocarditis, Abnormal circulating cytokine concentration, Arthritis, Amaurosis fugax, Thrombocyto...	ORPHA:464343
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Iris transillumination defect, Impaired ADP-induced platelet aggr...	OMIM:614074
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Fg Syndrome Type 1	Hypospadias, Small pituitary gland, Abnormal social behavior, Short stature, Slender build, Crypt...	ORPHA:93932
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Pulmonary edema, Anemia, Elevated circulating hepatic transaminase concentration, A...	ORPHA:340
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Rod-cone dystrophy, Macular atrophy, Optic disc pallor, Reduced sperm motility	OMIM:615434
Fanconi Anemia	Microphthalmia, Astigmatism, Anemia, Abnormality of vision, Abnormal testis morphology, Cataract,...	ORPHA:84
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increase...	OMIM:105650
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullar...	ORPHA:99889
Interstitial Cystitis	Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph...	ORPHA:37202
Tangier Disease	Hypertriglyceridemia, Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange disc...	ORPHA:31150
Peters Plus Syndrome	Postnatal growth retardation, Rhizomelia, Hypospadias, Anterior hypopituitarism, Disproportionate...	ORPHA:709
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul...	OMIM:619693
Tyrosinemia, Type Iii	Elevated circulating hepatic transaminase concentration, Hypertyrosinemia	OMIM:276710
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Microphthalmia, Cheilitis, Neoplasm of the skin, Corneal o...	ORPHA:534
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Visual loss, Central posterior corneal opacity, Photopho...	ORPHA:98964
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Acute Generalized Exanthematous Pustulosis	Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,...	ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Short statu...	OMIM:619743
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alkal...	OMIM:619525
Necrotizing Enterocolitis	Leukocytosis, Ascites, Hyponatremia, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Cataract, Thrombocytopenia, Myopia, Intrauterine growth retardation	OMIM:612394
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Abnormal testis morphology, Attenuation o...	ORPHA:791
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morpholog...	OMIM:188400
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Skin rash, Acute...	ORPHA:99829
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Pancytopenia, Abnormal circulating enzyme concentration or activity, Hypoca...	ORPHA:2785
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Delayed puberty, Chro...	ORPHA:79259
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Methylmalonic acidemia, Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Elevated...	ORPHA:79282
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Jacobsen Syndrome	Microphthalmia, Annular pancreas, Microcornea, Thrombocytopenia, Intrauterine growth retardation,...	OMIM:147791
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim...	ORPHA:436252
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ...	ORPHA:79665
Chronic Graft Versus Host Disease	Pneumothorax, Recurrent corneal erosions, Elevated circulating hepatic transaminase concentration...	ORPHA:99921
Snakebite Envenomation	Hypopituitarism, Hyponatremia, Thrombocytopenia	ORPHA:449285
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Short stature, Thrombocytopenia, Osteosarcoma	OMIM:620072
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu...	OMIM:263000
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Recon Progeroid Syndrome	Anemia, Short stature, Growth delay, Thrombocytopenia, Keratoconjunctivitis sicca	OMIM:620370
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Rothmund-Thomson Syndrome Type 2	Osteopenia, Finger symphalangism, Calcinosis, Aplastic anemia, Neutropenia, Anemia, Abnormal trab...	ORPHA:221016
Alg3-Cdg	Neural tube defect	ORPHA:79321
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Reduced haptoglobin level, Conjunctival icterus, Pancytopenia, Abnormal erythro...	ORPHA:447
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Anemia, Neoplasm of the rectum, Neoplasm of the sma...	ORPHA:44890
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Acute Disseminated Encephalomyelitis	Herpes simplex encephalitis, Optic neuritis, Myelitis, Viral hepatitis	ORPHA:83597
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho...	OMIM:228520
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Hypopho...	OMIM:276700
Stankiewicz-Isidor Syndrome	Hypospadias, Abnormal optic disc morphology, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst	OMIM:617516
Wolfram Syndrome 2	Optic atrophy, Oligomenorrhea, Optic neuropathy, Primary amenorrhea	OMIM:604928
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte...	OMIM:164745
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased testicular size,...	ORPHA:293967
Acute Liver Failure	Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Hepatic periportal ...	ORPHA:90062
Braddock-Carey Syndrome 1	Growth delay, Thrombocytopenia	OMIM:619980
Oculocerebral Hypopigmentation Syndrome, Preus Type	Photophobia, Short stature, Iris hypopigmentation, Cataract, Abnormality of neutrophils, Hypochro...	ORPHA:2720
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal soci...	ORPHA:177907
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Calcinosis, Finger symphalangism, Anemia, Abnormal trabecular bone m...	ORPHA:221008
Aicardi-Goutières Syndrome	Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Panniculitis, Ch...	ORPHA:51
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Lysosomal Acid Lipase Deficiency	Decreased liver function, Hypertriglyceridemia, Hyperkalemia, Jaundice, Elevated circulating hepa...	ORPHA:275761
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Noonan Syndrome 4	Blue irides, Cryptorchidism, Thrombocytopenia, Short stature	OMIM:610733
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
21Q22.11Q22.12 Microdeletion Syndrome	Postnatal growth retardation, Recurrent otitis media, Anemia, Hypoplastic nipples, Short stature,...	ORPHA:261323
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Fanconi Anemia, Complementation Group B	Aplastic anemia, Abnormal lung lobation, Growth delay, Thrombocytopenia, Intrauterine growth reta...	OMIM:300514
Limb-Mammary Syndrome	Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Hypohidrosis, Bilatera...	ORPHA:69085
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Deeah Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hypermetropia, Anterior pitu...	OMIM:619004
22Q11.2 Deletion Syndrome	Chronic otitis media, Microphthalmia, Corneal neovascularization, Seborrheic dermatitis, Splenome...	ORPHA:567
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Immunodeficiency 55	Postnatal growth retardation, Lymphadenopathy, Eczematoid dermatitis, Short stature, Lymphopenia,...	OMIM:617827
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Peters-Plus Syndrome	Bilobate gallbladder, Postnatal growth retardation, Rhizomelia, Hypospadias, Disproportionate sho...	OMIM:261540
Lesch-Nyhan Syndrome	Short stature, Testicular atrophy	OMIM:300322
Wars2-Related Combined Oxidative Phosphorylation Defect	Intrauterine growth retardation, Thrombocytopenia, Amblyopia, Abnormal circulating enzyme concent...	ORPHA:572798
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Microphthalmia, Squamous cell carcinoma of the skin, Short stature, Neoplas...	OMIM:610651
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Skin rash, Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultu...	OMIM:253270
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-cone dystrophy, Pigmenta...	OMIM:300578
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Ascites, Abnormal lung morphology, Thrombocytopenia, Abnormality of the liver...	ORPHA:464321
Cardiac-Urogenital Syndrome	Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dysplastic tricuspi...	OMIM:618280
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Capillary hemangioma, Hypocalcemia, Hyperbilirubinemia, Short stature, Thrombocytopenia, ...	ORPHA:163979
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Iniencephaly	Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen...	ORPHA:63259
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms	OMIM:614874
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern, Elevated circulating carcinoembryonic antigen c...	ORPHA:264675
Cornelia De Lange Syndrome 1	Pneumonia, Astigmatism, Microcornea, Hypoplastic nipples, Duplication of internal organs, Short s...	OMIM:122470
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia, Intrauterine growth retardati...	OMIM:619005
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi...	OMIM:200980
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Cogan Syndrome	Scleritis, Anemia, Photophobia, Inflammatory abnormality of the eye, Leukocytosis, Episcleritis, ...	ORPHA:1467
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Cerebral visual impairment, Visual impairment, High nonceruloplasmin-bound seru...	ORPHA:457351
Jacobsen Syndrome	Annular pancreas, Microcornea, Eczematoid dermatitis, Short stature, Bone marrow hypocellularity,...	ORPHA:2308
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hype...	OMIM:613471
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ...	ORPHA:3455
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Visual loss, Photophobia, Lymphadenopathy, Erythema n...	ORPHA:90340
Ogden Syndrome	Enlarged kidney, Cardiomegaly, Intrauterine growth retardation, Jaundice, Pulmonary artery stenos...	OMIM:300855
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Asplenia, Bronchiectas...	OMIM:244400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Abnormal pituitary gland morphology, Thyrotoxicosis ...	ORPHA:64744
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Congenital...	ORPHA:93325
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Atelis Syndrome 2	Thrombocytopenia, Microphthalmia, Anemia, Developmental cataract	OMIM:620185
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t...	ORPHA:140
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Myositis, Thyroidi...	ORPHA:79078
Tetrasomy 9P	Inappropriate behavior, Infertility, Oligozoospermia, Absent gallbladder, Cryptorchidism, Micrope...	ORPHA:3310
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Thyroid adenoma	OMIM:617100
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf...	ORPHA:322
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Oculocutaneous Albinism Type 1B	Basal cell carcinoma, Photophobia, Squamous cell carcinoma of the skin, Melanoma, Iris hypopigmen...	ORPHA:79434
Familial Multinodular Goiter	Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p...	ORPHA:276399
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Hydrolethalus Syndrome 1	Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h...	OMIM:236680
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,...	ORPHA:363958
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Photophobia, Squamous cell carcinoma of the skin, Melanoma, Keratitis, Conj...	OMIM:278740
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypernatremia, Hyperglycinemia, Thrombocytopenia	OMIM:620423
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Photophobia, Actinic keratosis, Squamous cell carcinoma of the skin, Kerati...	OMIM:278720
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Cystic Fibrosis	Absent vas deferens, Male infertility, Decreased body mass index, Depression, Failure to thrive, ...	ORPHA:586
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Short stature, Ovarian cyst, Cr...	OMIM:614527
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Basal cell carcinoma, Emphysema, Squamous cell carcinoma of the skin, Abnor...	ORPHA:363618
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Photophobia, Squamous cell carcinoma of the skin, Iris hypopigmentation, Vi...	ORPHA:79431
Mend Syndrome	Short stature, Failure to thrive, Cryptorchidism, Abnormal social behavior	ORPHA:401973
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Interlobular septal thickening, Absent bronchoalveolar d...	OMIM:265120
Ivic Syndrome	Thrombocytopenia, Leukocytosis, Severe short stature	ORPHA:2307
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Cataract, T...	ORPHA:3103
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Norrie Disease	Delayed puberty, Irritability, Erectile dysfunction, Uterine rupture, Cachexia, Cryptorchidism, F...	ORPHA:649
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Cryptorchidism, Thrombocytopenia	OMIM:616737
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Ectopic anterior pituitary gland	OMIM:620558
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Papilledema, Rod-cone dystrophy, Male hypogonadism, Micropenis, Retinal...	OMIM:619471
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Abnormality of the lymphatic system, Total anomalous pulmonary veno...	ORPHA:487796
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Oculocutaneous Albinism Type 2	Iris transillumination defect, Basal cell carcinoma, Photophobia, Squamous cell carcinoma of the ...	ORPHA:79432
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Abnormal social behavior	ORPHA:530983
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Short stat...	OMIM:264090
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyposis, Hypoproteinemia, Small ...	ORPHA:2929
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Skin rash, Squamous cell carcinoma of the skin, Melanoma, Short stature, Di...	ORPHA:220295
Systemic Lupus Erythematosus	Cheilitis, Lymphadenopathy, Malar rash, Arthritis, Discoid lupus rash, Thrombocytopenia, Leukopen...	ORPHA:536
Cystinosis, Nephropathic	Delayed puberty, Male infertility, Male hypogonadism, Primary hypothyroidism, Hypohidrosis, Short...	OMIM:219800
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Periodontitis, Keratoc...	OMIM:130050
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, High myopia, Vitreous floaters, Recurrent respiratory...	OMIM:618458
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Aplasia of the uterus, Micropenis, Growth delay	OMIM:614083
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia, Blindness	ORPHA:853
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Conjunctivitis, Squamous cell carcinoma of the skin, Melanoma	OMIM:278700
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Intraalveolar phospholipid accumulatio...	ORPHA:747
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concen...	ORPHA:466650
Noonan Syndrome 1	Postnatal growth retardation, Male infertility, Hypospadias, Short stature, Hypogonadism, Failure...	OMIM:163950
Wolf-Hirschhorn Syndrome	Hypospadias, Severe postnatal growth retardation, Aplasia of the uterus, Precocious puberty, Shor...	OMIM:194190
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Photophobia, Cornea...	ORPHA:67043
Osteogenesis Imperfecta	Rhizomelia, Corneal opacity, Short stature, Growth delay, Pulmonary hypoplasia, Thrombocytopenia,...	ORPHA:666
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Buphthalmos, Microcornea, Corneal opacity, Ultra-low vision with n...	OMIM:221900
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Abnormal social behavior, Emotional lability, Depression	ORPHA:309271
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos...	OMIM:304120
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow...	ORPHA:91495
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:199241
Pagod Syndrome	Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru...	ORPHA:991
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Retinal pigment epithelial ...	ORPHA:71505
Epidermodysplasia Verruciformis, Susceptibility To, 2	Squamous cell carcinoma of the skin, Verruca plana	OMIM:618231
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut...	OMIM:107480
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Anemia, Intestinal polyposis, Cholelithiasis, Port...	ORPHA:774
Tuberous Sclerosis Complex	Abnormal social behavior, Pancreatic endocrine tumor, Depression, Pheochromocytoma, Parathyroid h...	ORPHA:805
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multinodular goit...	OMIM:620189
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Mild short stature, Disproportionate short-limb short stature, Hyposegmentation of ne...	OMIM:618019
Goodpasture Syndrome	Anemia, Reticular pattern on pulmonary HRCT, Increased blood urea nitrogen, Hemosiderin-laden mac...	OMIM:233450
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Abnormal optic disc morphology	ORPHA:363417
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Pilomatrixoma, Cataract, Short stature, Growth delay, Meningioma, Otitis media...	ORPHA:353281
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor...	OMIM:218330
Pseudoleprechaunism Syndrome, Patterson Type	Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche	ORPHA:2976
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Charge Syndrome	Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd...	OMIM:214800
Williams Syndrome	Cholelithiasis, Hypoplasia of penis, Depression, Abnormal social behavior, Precocious puberty, Hy...	ORPHA:904
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hypospadias, Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits, Supernumerar...	ORPHA:397715
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Postnatal growth retardation, Hypermetropia, Pilomatrixoma, Corneal scarring, Cataract, Short sta...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Postnatal growth retardation, Hypermetropia, Pilomatrixoma, Corneal scarring, Cataract, Short sta...	ORPHA:353277
Coffin-Siris Syndrome 1	Postnatal growth retardation, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Short sta...	OMIM:135900
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
7Q11.23 Microduplication Syndrome	Hypospadias, Abnormal optic disc morphology, Aplasia/hypoplasia of the uterus, Cryptorchidism, Ap...	ORPHA:96121
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Childhood Absence Epilepsy	Depression, Abnormal social behavior	ORPHA:64280
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Neu-Laxova Syndrome 1	Intrauterine growth retardation, Bifid uterus, Cryptorchidism	OMIM:256520
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Short stature, Growth delay	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Short stature, Growth delay	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect, Short stature, Growth delay	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Short stature, Growth delay	ORPHA:93924
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Okamoto Syndrome	Severe postnatal growth retardation, Bifid uterus	ORPHA:2729
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morphology	ORPHA:508498
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Cystic Fibrosis	Exocrine pancreatic insufficiency, Failure to thrive, Male infertility, Pancreatitis	OMIM:219700
Pallister-Killian Syndrome	Aplasia of the upper vagina, Rhizomelia, Hypospadias, Labial hypoplasia, Mesomelic/rhizomelic lim...	OMIM:601803
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Schinzel-Giedion Syndrome	Neural tube defect, Umbilical hernia	ORPHA:798
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Short stature, Uterine prolapse, Cystocele, Cryptorchidism	ORPHA:286
Niemann-Pick Disease Type C	Depression, Low frustration tolerance, Abnormal social behavior	ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior	ORPHA:314647

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological process term spermatogenesis defect	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult
Ovary - MPATH pathological process term follicular atresia	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Egr1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sex linked behavioral and hippocampal transcriptomic changes in mice with cell-type specific Egr1 loss.	Frontiers in neuroscience (October 2023)	Egr1^{tm1a(NCOM)Mfgc}	PMC10623684

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Egr1^{tm214497(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Egr1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Egr1^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Egr1^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Egr1 MGI:95295

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Immunophenotyping

Embryo LacZ

X-ray

X-ray

Histopathology

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

OPT E9.5

Gross Morphology Embryo E9.5

Human diseases caused by Egr1 mutations

Histopathology

IMPC related publications

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