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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, NGFI-A, Krox-24, Egr-1, Zif268, NGFIA, Zenk, ETR103

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal embryo size	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal neural tube closure	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
absent seminal vesicle	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
embryonic growth retardation	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
preweaning lethality, incomplete penetrance	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal hindbrain development	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
short tibia	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	8.95×10^-06
small uterus	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
increased lymphocyte cell number	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	1.70×10^-05
decreased body length	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	3.86×10^-05
abnormal optic disk morphology	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	3.01×10^-05
abnormal forebrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
female 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.

Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Histopathology

Images

10 Images

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Gross Pathology and Tissue Collection

Images

18 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 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 (1508 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 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
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 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
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 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
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	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
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
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:163976
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Spermatogenic Failure 17	Male infertility	OMIM:617214
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Short stature, Shyness, Cryptorchidism, Increased ci...	ORPHA:163971
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat...	OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
49,Xxxyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:261534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
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
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro...	OMIM:618841
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:99330
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata...	ORPHA:453533
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon...	OMIM:308700
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Short stature, Decreased HD...	OMIM:607616
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Spermatogenic Failure 14	Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen...	OMIM:615842
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility	OMIM:261550
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate...	OMIM:310490
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn...	OMIM:614742
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab...	ORPHA:210136
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In...	ORPHA:289548
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, L...	ORPHA:3261
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Hypersensit...	ORPHA:1163
Fetal Cytomegalovirus Syndrome	Abnormality of vision, Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Irritability, Hypogonadism, Emotional lability, Decreased serum testosterone conce...	OMIM:201100
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Perianal abscess, Splenomeg...	OMIM:618935
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Woodhouse-Sakati Syndrome	Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t...	ORPHA:3464
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Morbid Obesity And Spermatogenic Failure	Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus	OMIM:615703
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros...	OMIM:614743
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Aarskog-Scott Syndrome	Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc...	OMIM:305400
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Growth delay, Pulmona...	OMIM:615704
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu...	ORPHA:3044
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory...	OMIM:614470
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Portal hypertension, Cryptorchidism, Anemia, Squamous cell carcinoma of the skin,...	OMIM:620365
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Growth...	OMIM:619510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Müllerian Aplasia And Hyperandrogenism	Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron...	ORPHA:247768
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Interstitial Lung Disease 2	Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Increased c...	OMIM:178500
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Abnormality of the liver, Intrauterine growth retardation, Thrombo...	ORPHA:1980
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Ovarian Dysgenesis 10	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ...	ORPHA:465508
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl...	ORPHA:60026
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co...	OMIM:615934
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Gonadoblastoma	Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s...	ORPHA:206484
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration, Premature ovarian insufficiency	ORPHA:101006
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, ...	OMIM:127550
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchie...	OMIM:612387
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp...	ORPHA:2959
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, De...	OMIM:202010
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Short stature, Skin rash, Splenomegaly, Jaundice, Anemia...	ORPHA:290
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Seckel Syndrome 7	Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra...	OMIM:614851
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Microcytic anemia, Abnormal p...	OMIM:619013
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Satoyoshi Syndrome	Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,...	ORPHA:3130
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol...	ORPHA:99931
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame...	OMIM:212840
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
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
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi...	OMIM:618278
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Mic...	ORPHA:858
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia	OMIM:189800
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Growth delay, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro...	ORPHA:169160
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He...	ORPHA:3260
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein conce...	OMIM:612852
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:619767
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Re...	ORPHA:133
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Wilson Disease	Acute hepatic failure, Hepatomegaly, Acute hepatitis, Elevated hepatic transaminase, Splenomegaly...	ORPHA:905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Oste...	ORPHA:47
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, He...	ORPHA:186
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature	OMIM:601076
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,...	OMIM:618165
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter	OMIM:617577
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary fibrosis, Irregula...	ORPHA:90060
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Acute hepatitis, Stif...	ORPHA:39812
Ovarian Dysgenesis 4	Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu...	OMIM:616185
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600785
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, Bone marrow hypocellu...	OMIM:613989
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:614727
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int...	OMIM:615952
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract ...	ORPHA:79301
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Short stature, Skin rash, Elevated circulating C-reactive protein concentration, Di...	OMIM:616050
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Tibial Hemimelia	Absent tibia	OMIM:275220
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Car...	OMIM:602390
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis...	ORPHA:292
Kennedy Disease	Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction	ORPHA:481
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ...	ORPHA:101330
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematological neoplasm, Hypersplenism...	ORPHA:98850
Amed Syndrome, Digenic	Hypoplasia of the uterus, Failure to thrive, Short stature, Adrenal hypoplasia	OMIM:619151
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonar...	ORPHA:732
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature...	ORPHA:229717
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti...	ORPHA:254361
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary inter...	ORPHA:77259
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Photophobia, Leuko...	ORPHA:108
Idiopathic Pulmonary Fibrosis	Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary fibrosis, R...	ORPHA:2032
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ...	ORPHA:243
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hyperlipidemia, Osteoporosis, Portal fib...	ORPHA:369
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Ptery...	OMIM:305000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Hermansky-Pudlak Syndrome	Myopia, Cataract, Abnormality of thrombocytes, Amblyopia, Ocular albinism, Photophobia, Basal cel...	ORPHA:79430
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Dysgam...	OMIM:308230
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Increased circulating IgM level, Granulomatous cholangitis, Choles...	ORPHA:562639
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	OMIM:607625
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital...	ORPHA:96181
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Riddle Syndrome	Decreased circulating IgG level, Short stature, Pulmonary fibrosis	OMIM:611943
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Satoyoshi Syndrome	Hypoplasia of the uterus, Short stature, Amenorrhea	OMIM:600705
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec...	OMIM:618187
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr...	OMIM:613990
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Short stature, Elevated c...	OMIM:610377
Spastic Paraplegia 26, Autosomal Recessive	Emotional lability, Decreased serum testosterone concentration	OMIM:609195
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:81
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepa...	ORPHA:171
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul...	OMIM:300068
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Short stature, Elevated circulating C...	ORPHA:355
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Ocular albinism, Reduced visual acuity, Pulmonary fibrosis	OMIM:614073
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils...	ORPHA:381
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,...	OMIM:224230
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit...	ORPHA:797
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti...	ORPHA:3085
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr...	OMIM:610333
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea	OMIM:620312
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Reduced 3-phosphoglycerate dehydrogenase activity, Developmental cataract, ...	OMIM:601815
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Preeclampsia	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Polycystic ovaries,...	ORPHA:275555
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Growth delay, Hypoca...	ORPHA:100025
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph...	OMIM:209950
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Lead Poisoning	Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos...	ORPHA:330015
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo...	OMIM:230800
Asbestos Intoxication	Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor...	ORPHA:2302
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Photophobia, Inflammation of the large intestine, Emphysema...	OMIM:181000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Short stature, Rhizomelia, Eczema, Decreased circulating antibo...	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Hyponatremia, Sk...	OMIM:603553
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa...	ORPHA:1227
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Leukoencephalopathy With Vanishing White Matter 4	Primary amenorrhea, Optic atrophy, Secondary amenorrhea	OMIM:620314
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Non-Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141179
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal...	OMIM:614732
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ho...	OMIM:620282
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, N...	ORPHA:69077
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret...	OMIM:616113
Overlap Myositis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal pulmo...	ORPHA:206572
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level	OMIM:618901
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Pulmonary fibrosis, Usual interstitial pneumonia	OMIM:616373
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:79085
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Premature Ovarian Failure 16	Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat...	OMIM:618723
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Visual loss, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Decr...	OMIM:616740
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:600081
3-Methylglutaconic Aciduria Type 4	Cataract, Decreased liver function, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Premature Ovarian Failure 14	Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ...	OMIM:618014
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Rapidly Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141184
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,...	ORPHA:169079
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Short stature, Postnatal growth retardation, Anemia, Bone marrow hypocellularity, Pulm...	OMIM:612199
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circula...	ORPHA:37748
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Recurrent upper respiratory tract ...	ORPHA:263501
Fetal Parvovirus Syndrome	Abnormality of vision, Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia	ORPHA:295
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ...	OMIM:610628
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration...	OMIM:618963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Leukopenia, Tubulointerstitial...	ORPHA:289390
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Cataract, Corneal dystrophy, Photophobia, Pulmonary fibrosis	ORPHA:1839
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocyto...	ORPHA:2123
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Amblyopia, Atopic dermatitis, Hypermetropi...	OMIM:618624
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E...	ORPHA:911
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Hypercholesterolemia, Thrombocytopenia, Splenomegal...	OMIM:210250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Abnormal pulmonary inters...	ORPHA:2072
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Photophobia, Periodontitis, Neutropenia, Abnormal natural killer cell mor...	ORPHA:167
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent...	OMIM:240500
Atypical Hemolytic Uremic Syndrome	Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Short stature, R...	OMIM:620210
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Premature ovarian insufficiency, Optic atrophy, Amenorrhea	OMIM:619425
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hyperammonemia, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Respiratory tract infection, Mediastin...	ORPHA:79128
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan...	OMIM:208085
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Reduced visual acuity, Goiter	OMIM:617175
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, El...	OMIM:235555
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Recurrent pneumonia, Anemia, Neutropenia, Re...	OMIM:617475
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Forsythe-Wakeling Syndrome	Growth delay, Short stature, Thrombocytopenia	OMIM:613606
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Increased circ...	OMIM:614034
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm...	OMIM:209920
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Cinca Syndrome	Hepatomegaly, Blindness, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circul...	ORPHA:1451
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla...	OMIM:266810
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po...	OMIM:602347
Atelis Syndrome 1	Cataract, Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,...	OMIM:231000
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Short stature, Decreased response to growth hormone stimulation test, ...	ORPHA:457240
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Typhoid	Hepatomegaly, Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Infectious enc...	ORPHA:99745
Boutonneuse Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Sagittal craniosynostosis, P...	OMIM:610199
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G...	OMIM:615866
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Endocarditis...	ORPHA:449280
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Fanconi Renotubular Syndrome 5	Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma	OMIM:618913
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Abnormal pulmonary interstitial morphology, A...	ORPHA:35687
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Pericarditis, Recurrent intrapulmonary hemorrhage, Sinusitis, S...	ORPHA:900
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit...	OMIM:616435
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Robinow Syndrome	Small scrotum, Small for gestational age, External genital hypoplasia, Short stature, Cryptorchid...	ORPHA:97360
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circ...	ORPHA:420741
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Cirrhosis, Increased se...	ORPHA:101028
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hyperammonemia, Elevated circulating sub...	OMIM:615160
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,...	ORPHA:169090
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an...	ORPHA:33355
Surfactant Metabolism Dysfunction, Pulmonary, 3	Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq...	OMIM:610921
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta...	OMIM:610978
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Single lineage myelodysplasia...	ORPHA:86839
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Eczema, Hyperammonemia, Anemia, Hyperglycinemia, Neutr...	OMIM:606054
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Short stature, ...	ORPHA:1667
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal pulmon...	ORPHA:85443
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Visual impairment, A...	OMIM:611490
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anemia, Cholestasis, ...	ORPHA:440713
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Telangi...	OMIM:235200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Elevated circulating creatine kinas...	OMIM:301056
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,...	OMIM:608104
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Braddock Syndrome	Intrauterine growth retardation, Short stature, Pulmonary fibrosis	ORPHA:52047
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Abnor...	ORPHA:77293
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
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase	ORPHA:75563
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435651
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune...	ORPHA:391487
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Irritability, Hypogonad...	ORPHA:96263
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura...	OMIM:606069
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Short stature, Post...	OMIM:609981
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Corneal opacity, Short stature, Minimal chang...	ORPHA:1830
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Hype...	OMIM:202110
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation...	ORPHA:397590
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphop...	ORPHA:549
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Blindness, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating ...	OMIM:259700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D...	ORPHA:495875
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Atelectasis, Leukocytosis, Increased circu...	ORPHA:2902
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa...	OMIM:619518
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
X-Linked Intellectual Disability, Snyder Type	Short stature, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased c...	OMIM:612301
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos...	OMIM:259720
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ocular albinism, Abnormal pulmonary...	OMIM:617050
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Pituitary Gigantism	Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like...	ORPHA:99725
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia...	ORPHA:228426
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia	OMIM:617914
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:264700
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy...	OMIM:619573
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Chroni...	OMIM:203800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Short stature, Eczema, Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tr...	ORPHA:508542
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Myopia, Pancytopenia, Aplastic anemia, Short stature, Eczema, Pancreatic ...	OMIM:617052
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Acquired Purpura Fulminans	Skin rash, Elevated circulating C-reactive protein concentration, Neoplasm, Hepatic failure, Thro...	ORPHA:49566
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infectio...	OMIM:617303
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu...	OMIM:619523
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblasti...	OMIM:229100
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,...	OMIM:307200
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Malar rash, Leukopenia, Arthritis, Pleuritis, Ne...	OMIM:152700
Surfactant Metabolism Dysfunction, Pulmonary, 2	Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des...	OMIM:610913
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Small for gestational age, Short stature, Postnatal growth retardation...	OMIM:616489
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Decreas...	ORPHA:54057
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, B-cell lymphoma, Splenomegaly, Recurrent upper re...	OMIM:616005
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Menorrhagia, Joint...	ORPHA:327
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, Abnormal pu...	OMIM:616414
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Hypopla...	OMIM:618419
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d...	ORPHA:769
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ...	ORPHA:221
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435660
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Erythroderma, Lymphadenopathy, Abnormality of the liver,...	ORPHA:79456
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Cryptorchidism...	OMIM:614857
Sengers Syndrome	Myopia, Cataract, Developmental cataract, Growth delay, Thrombocytopenia	OMIM:212350
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,...	OMIM:260400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal peripheral action po...	ORPHA:457205
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda...	OMIM:613385
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:618160
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Cholestasis...	OMIM:620233
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ...	ORPHA:289157
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, L...	ORPHA:448237
3-Methylglutaconic Aciduria, Type V	Hypospadias, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Failu...	OMIM:610198
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Congestive heart failure, Insulin-resistant d...	ORPHA:79083
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a...	ORPHA:1173
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor...	ORPHA:813
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Schimke Immunoosseous Dysplasia	Myopia, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Disproportionate s...	OMIM:242900
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma-glutamyltransferas...	ORPHA:400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Meckel Syndrome 12	Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia	OMIM:616258
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Blindness, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Leukodystrophy, Hypomyelinating, 21	Cryptorchidism, Optic atrophy, Hypogonadotropic hypogonadism	OMIM:619310
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Short...	OMIM:277380
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in...	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu...	OMIM:251290
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Hermansky-Pudlak Syndrome 1	Blindness, Ocular albinism, Photophobia, Inflammation of the large intestine, Colitis, Pulmonary ...	OMIM:203300
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neu...	ORPHA:525731
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Shigellosis	Hyponatremia, Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal...	ORPHA:810
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Cataract, Anemia, Intrauterine growth retardation, A...	ORPHA:79325
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma...	ORPHA:85450
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Cataract, Short stature...	ORPHA:1775
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul...	ORPHA:178320
Systemic Sclerosis	Pericarditis, Barrett esophagus, Osteomyelitis, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Bronchitis, Respiratory tract infection, Abnormal circulating calcium concentration...	ORPHA:60025
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabetic ketoacidosi...	OMIM:615238
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun...	OMIM:613179
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Elevated hepatic transaminase, Severe B lympho...	OMIM:620005
Primary Ciliary Dyskinesia	Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ...	ORPHA:244
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, ...	OMIM:612541
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,...	OMIM:601186
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Small for gestational age, Rhizomelia, Oligozoospermia, Growth delay, Clitoral...	OMIM:614813
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Mirage Syndrome	Hyponatremia, Short stature, Myelodysplasia, Cryptorchidism, Hyperkalemia, Anemia, Leukopenia, As...	OMIM:617053
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Mucopolysaccharidosis Type 7	Splenomegaly, Epiphyseal stippling, Hepatitis, Joint stiffness	ORPHA:584
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia,...	OMIM:600901
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l...	ORPHA:2298
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphad...	ORPHA:39041
Lig4 Syndrome	Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Cryptorc...	OMIM:606593
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Blindness, Osteomyelitis, Mandibular osteomyelitis, H...	OMIM:259710
Late-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556037
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Tubulointerstitial nephritis, H...	OMIM:251000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Disseminated cutaneous war...	ORPHA:90362
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Short stature, Portal hypertension, Abnormal pulmona...	OMIM:613658
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro...	OMIM:617243
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu...	ORPHA:206569
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Thiamine-Responsive Megaloblastic Anemia Syndrome	Visual loss, Short stature, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Eczema, Thrombocytopenia	OMIM:619751
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Vi...	OMIM:249270
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Tufted Angioma	Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hemangioma	ORPHA:1063
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia,...	OMIM:227645
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia,...	OMIM:227650
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormali...	ORPHA:36426
Early-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556030
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ...	ORPHA:90051
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Cataract, Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropen...	OMIM:616271
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short...	OMIM:611881
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Malar rash, Lymphadenopathy, Leukopenia, Ascites, Arthri...	ORPHA:93552
Immunodeficiency 22	Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulatin...	OMIM:615758
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ...	ORPHA:238459
Sheehan Syndrome	Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p...	ORPHA:91355
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the ovary	ORPHA:543
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Familial Isolated Dilated Cardiomyopathy	Elevated circulating creatine kinase concentration, Abnormality of neutrophils	ORPHA:154
Gapo Syndrome	Short stature, Dysmenorrhea, Oligozoospermia, Growth delay, Hypogonadism, Amenorrhea	ORPHA:2067
Lichen Planopilaris	Hepatitis	ORPHA:525
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Reduced level...	OMIM:224120
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Vexas Syndrome	Macrocytic anemia, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, C...	OMIM:301054
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocy...	OMIM:612783
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Adams-Oliver Syndrome	Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmonary arte...	ORPHA:974
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O...	ORPHA:791
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte...	OMIM:612840
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Short stature, Recurren...	ORPHA:209905
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev...	ORPHA:67044
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic system, He...	ORPHA:464329
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Hashimoto thy...	ORPHA:589
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy	OMIM:222300
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto...	OMIM:246400
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Short stature, Anemia, Neoplasm, Bone marrow hypocellularity, Intr...	ORPHA:3322
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious...	ORPHA:2552
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal ...	ORPHA:537
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi...	OMIM:137920
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Visua...	OMIM:615578
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Blindness, Recurrent bacterial skin infections, Anisocytosis, ...	ORPHA:79277
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Visual i...	OMIM:614946
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ...	OMIM:608747
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Rickets, Elevated circulating alkaline...	OMIM:616026
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Pulmona...	OMIM:603585
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat...	ORPHA:370348
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv...	ORPHA:319213
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Visual impairment, Short stature, Thrombocytopenia, Cerebral visual impairment	OMIM:616577
Bloom Syndrome	Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ...	ORPHA:125
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentr...	OMIM:222700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ...	OMIM:102700
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
Pneumocystosis	Multiple pulmonary cysts, Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pne...	ORPHA:723
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circula...	ORPHA:319251
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Adenocarcinoma of the colon, E...	ORPHA:124
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Atrophic ga...	OMIM:615846
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Splenomegaly, Prolonged n...	OMIM:225750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Acute Promyelocytic Leukemia	Pancytopenia, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neu...	ORPHA:520
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Junctional ectopic tachycard...	OMIM:309801
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic f...	ORPHA:75233
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98793
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Optic disc pallor, Cryptorchidism	OMIM:613730
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Hypoalb...	OMIM:226300
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia	OMIM:616483
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep...	ORPHA:1855
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum, Optic atrophy	ORPHA:370924
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Kawasaki Disease	Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Jaundice, Cervical lymphadenopathy,...	ORPHA:2331
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Thrombocyt...	OMIM:614171
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Interstitial pneumonitis, Granulocytopenia, Lymph...	ORPHA:454831
Lathosterolosis	Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo...	ORPHA:46059
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177904
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim...	ORPHA:3035
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177901
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Enthesitis, Photophobia, Arthri...	ORPHA:29207
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed early-childhood social milestone development, Hashimoto thyroiditis, Premature ovarian in...	ORPHA:99413
Mosaic Monosomy X	Delayed early-childhood social milestone development, Hashimoto thyroiditis, Premature ovarian in...	ORPHA:99228
Monosomy X	Delayed early-childhood social milestone development, Hashimoto thyroiditis, Premature ovarian in...	ORPHA:99226
Turner Syndrome	Delayed early-childhood social milestone development, Hashimoto thyroiditis, Premature ovarian in...	ORPHA:881
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Pulmonary hypoplas...	OMIM:608013
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Testicular atrophy	OMIM:613987
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Recurrent r...	ORPHA:79324
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
1Q41Q42 Microdeletion Syndrome	Short stature, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology...	ORPHA:250999
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Cryptorchidism, Annular pancreas, Reticulocytopenia, Prolonged G2 ph...	OMIM:227646
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Pulmonary fibrosis	ORPHA:220393
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Short stature, Eczema, Postnatal growth retarda...	OMIM:212750
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Small scrotum, Optic atrophy	OMIM:615597
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Glioma, Dysgammaglobulinemia...	OMIM:251260
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal pulmonary interstitial morphology, Elevated circulating alkaline phosphata...	ORPHA:330001
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, El...	OMIM:619991
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Pleural effusion, Ascites, Thrombocytopenia	OMIM:617397
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Steatorrhea, High myopia, Hyperechog...	OMIM:617941
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia...	ORPHA:96334
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Recurrent skin infections, Hypermetropia, Decreased circulating antibody level, ...	ORPHA:79396
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Elevated...	ORPHA:67
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Dyskeratosis Congenita, Digenic	Short stature, Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squamous cell car...	OMIM:620040
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251100
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Skin rash, Reduced ...	ORPHA:2909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Keratoconjunctivitis, Growth delay, Thrombocytopenia, Perioral eczema	ORPHA:79242
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ...	OMIM:603467
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Photophobia, Leukopenia, Increased circulatin...	ORPHA:99827
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ...	ORPHA:73263
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithiasis, Thromboc...	OMIM:618775
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic...	ORPHA:30391
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc...	ORPHA:99826
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Myopia, Short stature, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, Reduc...	OMIM:614800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocho...	ORPHA:14
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E...	ORPHA:160
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Platelet Disorder, Undefined	Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm	OMIM:173420
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Cardiomegaly, Decreased circulating antibody level, Hydrocele test...	ORPHA:79330
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull...	OMIM:112200
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Myopia, Diffuse leiomyomatosis, Corneal erosion, Developmental cataract, Ante...	OMIM:301050
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti...	OMIM:620296
Dubowitz Syndrome	Hypoparathyroidism, Myopia, Cataract, Short stature, Eczema, Abnormality of neutrophils, Postnata...	ORPHA:235
Hsd10 Disease	Postnatal growth retardation, Abnormal social behavior	ORPHA:391417
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Tick-Borne Encephalitis	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi...	ORPHA:297
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypertension, Hypogo...	OMIM:209900
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior, Obesity	ORPHA:444002
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Corneal scarring, Conjunct...	OMIM:263700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Cerebral visual impairment, Seborrheic dermatitis, Splenomegaly, Mic...	OMIM:301072
Congenital Disorder Of Glycosylation, Type Iig	Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Giant platelets, Anemia,...	OMIM:611209
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag...	OMIM:617443
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast...	OMIM:301074
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ...	OMIM:277400
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Osteolysis, Rickets, Hepatitis, Cholestasis, Jo...	ORPHA:198
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Fg Syndrome Type 1	Hypospadias, Short stature, Cryptorchidism, Small pituitary gland, Abnormal social behavior, Slen...	ORPHA:93932
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,...	ORPHA:544482
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Alg6-Cdg	Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration	ORPHA:79320
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Oslam Syndrome	Increased mean corpuscular volume, Short stature, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating I...	ORPHA:505248
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Lipoid pneum...	OMIM:620326
16Q24.3 Microdeletion Syndrome	Myopia, Cryptorchidism, Increased mean corpuscular volume, Astigmatism, Chronic otitis media, Vis...	ORPHA:261250
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Thrombocytopenia, Amblyopia	OMIM:617710
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava...	OMIM:619611
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia	OMIM:230900
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Increased circulating ferritin concentration, Ele...	OMIM:615517
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Elevated...	ORPHA:90038
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Necrotizing Enterocolitis	Hyponatremia, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Bloom Syndrome	Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Lymphoma, Recurrent upper ...	OMIM:210900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Constriction of peripheral visual field...	OMIM:619418
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, G...	ORPHA:3240
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Smith-Kingsmore Syndrome	Cryptorchidism, Rhizomelia, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Peters Plus Syndrome	Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ...	ORPHA:709
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Glioma, B-cell...	ORPHA:647
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Chitayat Syndrome	Recurrent respiratory infections, Short stature, Abnormal pulmonary interstitial morphology	OMIM:617180
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemo...	ORPHA:464343
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur...	ORPHA:509
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Ocular albinism, Reduc...	OMIM:614074
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, ...	ORPHA:284
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Pulmonary edema...	ORPHA:340
Cryptococcosis	Blindness, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Medias...	ORPHA:1546
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Short stature, Myelodysplasia, Thrombocytop...	ORPHA:84
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Lentiglobus, Periodontitis, Chroni...	ORPHA:534
Icf Syndrome	Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Decreased circulatin...	ORPHA:2268
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,...	ORPHA:2785
Tyrosinemia, Type Iii	Hypertyrosinemia, Elevated hepatic transaminase	OMIM:276710
Combined Oxidative Phosphorylation Deficiency 55	Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypo...	OMIM:619743
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir...	ORPHA:99829
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Myopia, Cataract, Postnatal growth retardation, Intrauterine growth retardation, Thrombocytopenia	OMIM:612394
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Visual los...	ORPHA:98964
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Hyperh...	ORPHA:79282
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis...	ORPHA:221016
Stankiewicz-Isidor Syndrome	Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl scrotum, Micropenis	OMIM:617516
Cln3 Disease	Depression, Increased circulating androgen concentration	ORPHA:228346
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni...	ORPHA:79127
Jacobsen Syndrome	Recurrent respiratory infections, Amblyopia, Cryptorchidism, Microcornea, Microphthalmia, Annular...	OMIM:147791
Digeorge Syndrome	Impaired T cell function, Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop...	OMIM:188400
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th...	ORPHA:436252
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Recon Progeroid Syndrome	Short stature, Growth delay, Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Diamond-Blackfan Anemia 21	Short stature, Erythroid hypoplasia, Anemia, Thrombocytopenia, Osteosarcoma	OMIM:620072
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis...	ORPHA:221008
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Aicardi-Goutières Syndrome	Enchondroma, Elevated hepatic transaminase, Myositis, Short stature, Chilblains, Neonatal alloimm...	ORPHA:51
Braddock-Carey Syndrome 1	Growth delay, Thrombocytopenia	OMIM:619980
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopeni...	OMIM:105650
Alg3-Cdg	Neural tube defect	ORPHA:79321
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Short stature, Abnormality of neutrophils, Ocular albinism, Photophobia, Hypochromic an...	ORPHA:2720
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Short statur...	ORPHA:79259
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge...	ORPHA:93325
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility	OMIM:615434
Cardiac-Urogenital Syndrome	Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Noonan Syndrome 4	Cryptorchidism, Short stature, Blue irides, Thrombocytopenia	OMIM:610733
21Q22.11Q22.12 Microdeletion Syndrome	Short stature, Postnatal growth retardation, Anemia, Hypoplastic nipples, Recurrent otitis media,...	ORPHA:261323
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda...	OMIM:261540
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ...	ORPHA:177907
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Fanconi Anemia, Complementation Group B	Aplastic anemia, Abnormal lung lobation, Growth delay, Intrauterine growth retardation, Thrombocy...	OMIM:300514
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Chronic...	ORPHA:567
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Hypokalemia, Pulmonary fibrosis, De...	ORPHA:3337
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Elevated ci...	OMIM:276700
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Amblyopia, Thrombocytopenia, Intrauterine ...	ORPHA:572798
Immunodeficiency 55	Absent natural killer cells, Short stature, Recurrent skin infections, Myelodysplasia, Eczema, Po...	OMIM:617827
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia	ORPHA:1303
Lesch-Nyhan Syndrome	Testicular atrophy, Short stature	OMIM:300322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Myopia, Short stature, Anterior pituitary hypop...	OMIM:619004
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu...	OMIM:263000
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormal optic disc morphology...	ORPHA:293967
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp...	ORPHA:69085
Xeroderma Pigmentosum, Complementation Group B	Cataract, Short stature, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cut...	OMIM:610651
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Short stature, Cryptorchidism, Anemia, Capillary hemangioma, Hypocalcemia, Hy...	ORPHA:163979
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63259
Oeis Complex	Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Cornelia De Lange Syndrome 1	Myopia, Short stature, Pneumonia, Cryptorchidism, Microcornea, Astigmatism, Hypoplastic nipples, ...	OMIM:122470
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Fasciitis, Urinary bladder inflammation, Pneumothora...	ORPHA:99921
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Visual impairment, High nonceruloplasmin-bound serum copper, Thrombocytopenia, Cerebral visual im...	ORPHA:457351
Cogan Syndrome	Episcleritis, Blindness, Keratitis, Leukocytosis, Reduced visual acuity, Uveitis, Photophobia, Sc...	ORPHA:1467
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Diffuse alveolar hemorrhage, Abnormal lung morphology, Abnormality of the liver, Hyperbilirubinem...	ORPHA:464321
Jacobsen Syndrome	Recurrent respiratory infections, Cataract, Short stature, Eczema, Cryptorchidism, Microcornea, G...	ORPHA:2308
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Intrauterine growth retardation...	OMIM:619005
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Keratitis, Splenomegaly, Visu...	ORPHA:90340
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Atelis Syndrome 2	Microphthalmia, Thrombocytopenia, Anemia, Developmental cataract	OMIM:620185
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, C...	OMIM:244400
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperi...	ORPHA:79078
Chromosome 17Q12 Deletion Syndrome	Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor...	OMIM:614527
Ogden Syndrome	Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, Macrovesicular hepatic st...	OMIM:300855
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ...	ORPHA:363958
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Wiedemann-Rautenstrauch Syndrome	Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:3455
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Mend Syndrome	Abnormal social behavior, Cryptorchidism, Failure to thrive, Short stature	ORPHA:401973
Wolfram Syndrome 2	Primary amenorrhea, Optic atrophy, Oligomenorrhea, Optic neuropathy	OMIM:604928
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Oligozoospermia, Inappropriate behavior, Infertility, Intraut...	ORPHA:3310
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Oculocutaneous Albinism Type 1B	Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual impairme...	ORPHA:79434
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Short stature, Hypermetropi...	OMIM:127000
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Photophobia, Melanoma, Basal cell carcinoma, Conjunctivitis, Squamous cell carcinoma o...	OMIM:278740
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis...	OMIM:278720
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Skin rash, Thrombocytopenia	OMIM:253270
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Ivic Syndrome	Leukocytosis, Severe short stature, Thrombocytopenia	ORPHA:2307
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Roberts Syndrome	Cataract, Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, M...	ORPHA:3103
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahe...	ORPHA:363618
Oculocutaneous Albinism Type 1A	Ocular albinism, Photophobia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Visual i...	ORPHA:79431
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar...	ORPHA:536
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Long penis, Hypoplasia of ...	OMIM:264090
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Cryptorchidism	OMIM:616737
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Lamb-Shaffer Syndrome	Abnormal social behavior, Mild postnatal growth retardation	ORPHA:530983
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Irritability, Erectile dysfunction, Uterine rupture,...	ORPHA:649
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Oculocutaneous Albinism Type 2	Blue irides, Reduced visual acuity, Photophobia, Iris transillumination defect, Basal cell carcin...	ORPHA:79432
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Acute infectious pneumonia, Crazy paving pattern, Ele...	ORPHA:264675
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Postnatal growth retardation, Abnormality of the lymphatic system...	ORPHA:487796
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Skin rash, Diplopia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th...	ORPHA:220295
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Surfactant Metabolism Dysfunction, Pulmonary, 1	Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv...	OMIM:265120
Wolf-Hirschhorn Syndrome	Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth...	OMIM:194190
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Conjunctivitis, Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness, Neonatal alloimmune thrombocytopenia	ORPHA:853
Bardet-Biedl Syndrome 20	Papilledema, Bilateral cryptorchidism, Retinal vascular tortuosity, Male hypogonadism, Micropenis...	OMIM:619471
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Cystinosis, Nephropathic	Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Weight loss, Gr...	OMIM:219800
Fanconi Anemia, Complementation Group L	Growth delay, Intrauterine growth retardation, Micropenis, Aplasia of the uterus	OMIM:614083
Noonan Syndrome 1	Male infertility, Failure to thrive in infancy, Hypospadias, Short stature, Postnatal growth reta...	OMIM:163950
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Knobloch Syndrome 2	Recurrent respiratory infections, Anterior cortical cataract, Vitreous floaters, Abnormal pulmona...	OMIM:618458
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Osteogenesis Imperfecta	Rhizomelia, Short stature, Corneal opacity, Visceral angiomatosis, Osteoarthritis, Growth delay, ...	ORPHA:666
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Metachromatic Leukodystrophy, Adult Form	Abnormal social behavior, Depression, Emotional lability, Neoplasm of the gallbladder	ORPHA:309271
Pagod Syndrome	Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of ...	ORPHA:991
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow...	OMIM:221900
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Persistent Hyperplastic Primary Vitreous	Blindness, Cataract, Corneal opacity, Amblyopia, Phthisis bulbi, Leukocoria, Reduced visual acuit...	ORPHA:91495
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt...	OMIM:107480
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Intrauterine growth retardation, Diabetes mellitus, Increased circulating a...	ORPHA:2976
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumo...	OMIM:130050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Depression, Pheochromocyt...	ORPHA:805
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Mild short stature, Hyposegmentation of neutrophil nuclei, Rhizomelia, Disproportionate short-lim...	OMIM:618019
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Coffin-Siris Syndrome 1	Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Aplasia of the uterus, ...	OMIM:135900
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc...	OMIM:620189
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Cataract, Short stature, Pneumonia, Pilomatrixoma, Cryptorchidi...	ORPHA:353281
Neu-Laxova Syndrome 1	Cryptorchidism, Intrauterine growth retardation, Bifid uterus	OMIM:256520
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
7Q11.23 Microduplication Syndrome	Hypospadias, Cryptorchidism, Abnormal optic disc morphology, Aplasia/Hypoplasia of the fallopian ...	ORPHA:96121
Childhood Absence Epilepsy	Abnormal social behavior, Depression	ORPHA:64280
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Retinal dystrophy, Hypospadias, Supernumerary nipple, Subretinal deposits, Abnormal optic disc mo...	ORPHA:397715
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Short stature, ...	ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Cataract, Short stature, Pneumonia, Postnatal growth retardatio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Cataract, Short stature, Pneumonia, Postnatal growth retardatio...	ORPHA:353277
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoal...	OMIM:233450
Alobar Holoprosencephaly	Growth delay, Neural tube defect, Hydrocephalus, Short stature	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Growth delay, Neural tube defect, Hydrocephalus, Short stature	ORPHA:93926
Lobar Holoprosencephaly	Growth delay, Neural tube defect, Hydrocephalus, Short stature	ORPHA:93924
Semilobar Holoprosencephaly	Growth delay, Neural tube defect, Hydrocephalus, Short stature	ORPHA:220386
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Hypoalbuminemia, Abnormal pulmonary interstitial morphology	OMIM:614748
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, Abnormal optic disc morphology, Retinal coloboma	ORPHA:508498
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Cystic Fibrosis	Male infertility, Failure to thrive, Pancreatitis, Exocrine pancreatic insufficiency	OMIM:219700
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Anhidrosis, Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic li...	OMIM:601803
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Schinzel-Giedion Syndrome	Neural tube defect, Umbilical hernia	ORPHA:798
Vascular Ehlers-Danlos Syndrome	Hypospadias, Short stature, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse	ORPHA:286
Niemann-Pick Disease Type C	Abnormal social behavior, Low frustration tolerance, Depression	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 dysplasia	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 spermatogenesis defect	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.

No publications found that use IMPC mice or data for Egr1.

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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

Immunophenotyping

X-ray

Histopathology

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

OPT E9.5

X-ray

Embryo LacZ

Immunophenotyping

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Egr1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data