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Gene: Npepps MGI:1101358

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Gene Summary

Name:
aminopeptidase puromycin sensitive
Synonyms:
Psa,  MP100

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Npeppsem1(IMPC)Hmgu HOM Early adult 1.59×10-20
decreased bone mineral content Npeppsem1(IMPC)Hmgu HOM Early adult 5.37×10-06
thrombocytopenia Npeppsem1(IMPC)Hmgu HOM Early adult 4.69×10-05
abnormal bone structure Npeppsem1(IMPC)Hmgu HOM Early adult 9.42×10-10
increased lean body mass Npeppsem1(IMPC)Hmgu HOM Early adult 6.71×10-06
decreased locomotor activity Npeppsem1(IMPC)Hmgu HOM   Early adult 4.58×10-07
decreased vertical activity Npeppsem1(IMPC)Hmgu HOM Early adult 1.57×10-09
absent teeth Npeppsem1(IMPC)Hmgu HOM Early adult 3.93×10-05
abnormal retina morphology Npeppsem1(IMPC)Hmgu HOM Early adult 1.57×10-20
decreased erythrocyte cell number Npeppsem1(IMPC)Hmgu HOM Early adult 4.68×10-05
increased grip strength Npeppsem1(IMPC)Hmgu HOM Early adult 5.97×10-09
decreased total retina thickness Npeppsem1(IMPC)Hmgu HOM Early adult 2.80×10-45
decreased total body fat amount Npeppsem1(IMPC)Hmgu HOM Early adult 1.62×10-06
decreased hemoglobin content Npeppsem1(IMPC)Hmgu HOM   Early adult 3.26×10-05
hyperactivity Npeppsem1(IMPC)Hmgu HOM   Early adult 4.88×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Human diseases caused by Npepps mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
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
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Shyness, Cryptorchidism, Increased ci... ORPHA:163971
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
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
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
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
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
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Intrauteri... OMIM:300869
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
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
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
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
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
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
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
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
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
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
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
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 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
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Pseudobulbar paralysis, Premature ovarian insufficiency ORPHA:101006
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... OMIM:613986
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... ORPHA:157954
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 17
Male infertility OMIM:617214
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Irritability, Hypogonadism, Emotional lability, Decreased serum testosterone conce... OMIM:201100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... ORPHA:226307
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Oligodontia
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... ORPHA:99798
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence ... ORPHA:2410
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
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Malaria
Anemia, Retinopathy, Gait imbalance, Thrombocytopenia ORPHA:673
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Ovarian Dysgenesis 4
Decreased serum estradiol, Short stature, Elevated circulating follicle stimulating hormone level... OMIM:616185
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Intermediate Osteopetrosis
Abnormal dental morphology, Cortical sclerosis, Abnormality of the dentition, Generalized osteosc... ORPHA:210110
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth ho... OMIM:614963
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... ORPHA:90695
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Spastic Paraplegia 26, Autosomal Recessive
Emotional lability, Decreased serum testosterone concentration OMIM:609195
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Oral ulcer, Athetosis, Leukopenia, Neutropenia, F... OMIM:229050
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irri... ORPHA:3077
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Malar flattening, Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Optic atrophy, High palate, Retrognathia OMIM:300983
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytopenia ORPHA:49827
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... OMIM:159550
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... OMIM:309548
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypodontia OMIM:620270
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Carious teeth, Osteoporosis, Increased bone density with ... OMIM:136300
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Tooth malpos... OMIM:617475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Lethargy, ... ORPHA:79312
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
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
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... ORPHA:254516
Lead Poisoning
Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Oligozoospermia, Depressio... ORPHA:330015
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
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
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
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
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... ORPHA:100973
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Splenomegaly, Optic atrophy, ... OMIM:611490
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Nance-Horan Syndrome
Mandibular prognathia, Retinal detachment, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology, Sea-blue his... OMIM:607616
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo... OMIM:617052
Wt Limb-Blood Syndrome
Pancytopenia, Micrognathia, Retrognathia, Joint contracture of the 5th finger, Leukemia, Hypoplas... OMIM:194350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior, Elbow flexion contracture, Optic atrophy, A... OMIM:619470
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... OMIM:249270
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... OMIM:202010
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Grayish enamel, Micrognathia, High, narrow ... ORPHA:2980
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital... ORPHA:96181
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Atelis Syndrome 1
Carious teeth, Anemia, Leukopenia, High palate, Attention deficit hyperactivity disorder, Long ph... OMIM:620184
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukopenia, Lethargy... ORPHA:27
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Hartnup Disorder
Episodic ataxia, Hyperactivity, Glossitis, Attention deficit hyperactivity disorder OMIM:234500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Small for gestational age, Aggressive behavior, Gait ata... OMIM:609425
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Mandibular prognathia, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased respons... ORPHA:95494
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:615010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, Lethargy, Anemia ORPHA:289916
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Short stature, Primary amenorrhea OMIM:233400
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... OMIM:300845
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity ORPHA:75858
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Dental crowding, Aggressive behavior, Micrognathia, Persistence of primary teeth, ... OMIM:618342
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Craniosynostosis, Carious teeth, Thrombocytopenia, ... OMIM:259700
Eem Syndrome
Abnormality of retinal pigmentation, Abnormal dental morphology, Selective tooth agenesis, Cariou... ORPHA:1897
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Spondylometaphyseal Dysplasia, Axial
Disproportionate short-trunk short stature, Rhizomelia, Short stature, Reduced sperm motility OMIM:602271
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Aplastic anemia, Abno... ORPHA:2909
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Ck Syndrome
Hyperactivity, Dental crowding, Aggressive behavior, Micrognathia, Retrognathia, High palate, Mal... OMIM:300831
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Failure to thrive, Optic atrophy OMIM:274270
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Broad-based gait, Micrognathia, Retrognathia, Limb ataxia, Persistence ... OMIM:617101
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth... OMIM:190351
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Short philtrum OMIM:300928
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysmetria, Athetosis, Long ph... OMIM:617710
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Micrognathia, Hi... OMIM:234100
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Aggressive behavior, Cryptorchidism, Hypoplastic labia minora, Absence of labia majo... ORPHA:495875
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced... OMIM:619752
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Zimmermann-Laband Syndrome
Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior op... ORPHA:3473
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anorexia, Splenome... ORPHA:507
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Müllerian Aplasia And Hyperandrogenism
Short stature, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ... ORPHA:247768
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... ORPHA:2919
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia OMIM:598500
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... ORPHA:79444
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
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
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Abnormality of neutrophils, Thrombocytopenia, Cellulitis, Abnormal ... ORPHA:229717
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Thrombocytopenia OMIM:619981
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Alg8-Cdg
Ataxia, Abnormality of subcutaneous fat tissue, Small for gestational age, Thrombocytopenia, Opti... ORPHA:79325
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Obesity, Wide mouth, Inappropriat... ORPHA:411515
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Normochromic anemia, Neutropenia, Lethargy, Failure to thrive, Thr... OMIM:614857
Intellectual Developmental Disorder, Autosomal Recessive 38
Mandibular prognathia, Hyperactivity, Aggressive behavior, Unsteady gait, Narrow palate, Recurren... OMIM:615516
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Gingiva... OMIM:231200
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Failure to ... OMIM:619151
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleeding, Neutrop... ORPHA:88
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Camurati-Engelmann Disease
Waddling gait, Reduced subcutaneous adipose tissue, Increased bone mineral density, Mandibular pr... OMIM:131300
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility... OMIM:612650
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Oral ulcer, Gingivitis, Periodo... ORPHA:2686
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Dyspha... OMIM:222300
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Short philtrum, Neutropenia, Decreased platelet glycoprotein Ib, T... OMIM:603585
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Recurrent sinusitis, Anemia OMIM:613101
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, Microdontia, Bicorona... OMIM:619718
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bone Marrow Failure Syndrome 5
Hypogonadism, Growth delay, Testicular atrophy, Short stature OMIM:618165
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, Short stature, External genital hypopl... ORPHA:97360
Intellectual Developmental Disorder, Autosomal Dominant 7
Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Ataxia, Small for gestational age, Fail... OMIM:614104
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ... ORPHA:98850
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia ORPHA:1237
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Thrombocytopenia ORPHA:141184
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Micrognathia OMIM:188025
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Oral ulcer, Thrombocytopenia OMIM:616744
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mea... OMIM:127550
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Isovaleric Acidemia
Thrombocytopenia, Lethargy, Pancytopenia, Leukopenia OMIM:243500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Downturned corners of mouth, Self-injurious behavior, Bruxism, ... OMIM:618718
Acrofacial Dysostosis, Palagonia Type
Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ... ORPHA:1787
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Downturned corner... OMIM:617865
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Lip discoloration, Methemoglobinemia ORPHA:621
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... OMIM:614171
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas... ORPHA:502
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Reduced... OMIM:612649
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia, Camptodactyly OMIM:619751
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Smith-Magenis Syndrome
Mandibular prognathia, Retinal detachment, Hyperactivity, Everted upper lip vermilion, Abnormalit... OMIM:182290
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytope... OMIM:226990
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... ORPHA:79443
Schwartz-Jampel Syndrome
Micrognathia, High palate, Wrist flexion contracture, Long philtrum, Pursed lips, Abnormally ossi... ORPHA:800
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft upper lip, Retrognathia, Cleft palate, Persistence of hemo... OMIM:612561
Propionic Acidemia
Pancytopenia, Osteoporosis, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:606054
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Abnormali... ORPHA:397590
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Weight loss, Lethargy, Thrombocytopenia ORPHA:79242
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Exudative retinopathy, Leukopenia, Oral leuk... OMIM:613990
2Q23.1 Microdeletion Syndrome
Hyperactivity, Tented upper lip vermilion, Ataxia, Macrodontia, Polyphagia, Self-injurious behavi... ORPHA:228402
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... ORPHA:166108
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Decreased body weight, ... ORPHA:314621
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Braddock-Carey Syndrome 1
Pierre-Robin sequence, Cleft palate, Thick vermilion border, Everted lower lip vermilion, Camptod... OMIM:619980
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Thrombocytopenia, Spl... OMIM:214500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... OMIM:300946
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating ... OMIM:608747
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, Microcytic anemia, Flexion contracture, Retrognathia, High palate, Malar flattening... ORPHA:98791
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Osteolysis, Cleft ... ORPHA:3474
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Calvarial hyperostosis,... OMIM:612714
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Supernumerary tooth, High pa... ORPHA:77258
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Stt3B-Cdg
Failure to thrive, Optic atrophy, Thrombocytopenia ORPHA:370924
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... ORPHA:769
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Mi... OMIM:259720
Babesiosis
Hemolytic anemia, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Crypt... OMIM:615849
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Optic atrophy, Thrombocytopenia OMIM:615597
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Failure to thrive, Glossit... ORPHA:90045
Cri-Du-Chat Syndrome
Microretrognathia, Inguinal hernia, Hyperactivity, Small for gestational age, Aggressive behavior... OMIM:123450
Felty Syndrome
Sinusitis, Splenomegaly, Cellulitis, Osteolysis, Weight loss, Anemia, Neutropenia, Abnormal lymph... ORPHA:47612
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Cachexia, Thrombocytopenia, Leukocytosis, S... ORPHA:824
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Wilson Disease
Aggressive behavior, Thrombocytopenia, Hypersexuality, Splenomegaly, Increased body weight, Weigh... ORPHA:905
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Leukocytosis, Gingival overgrowth, Weight loss, Anemia, Leukopenia, Addic... ORPHA:520
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thrombocytopenia, Thick lower li... OMIM:620185
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopen... ORPHA:77259
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Obesity, Att... OMIM:301013
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick vermilion border, Malar flattening ORPHA:86818
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, ... OMIM:277380
21Q22.11Q22.12 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Failure to thrive in infancy, Dental cr... ORPHA:261323
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Sea-Blue Histiocytosis
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Micrognathia, Persistence of primary ... ORPHA:2785
Congenital Rubella Syndrome
Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Anemia ORPHA:290
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Failure to thrive, Thrombocytopenia OMIM:616577
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Takenouchi-Kosaki Syndrome
Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Ataxia, Increased mean platelet volum... OMIM:616737
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Re... OMIM:301078
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Micrognathia, Optic atrophy, Thick vermilion border, Abnormal temper tantr... ORPHA:530983
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Osteoporosis, Leukopenia, Neutropeni... OMIM:613989
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Glass Syndrome
Smooth philtrum, Restlessness, Hyperactivity, Broad-based gait, Inguinal hernia, Dental crowding,... OMIM:612313
Sengers Syndrome
Osteopenia, Thrombocytopenia OMIM:212350
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior, ... OMIM:620023
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug... ORPHA:672
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Persistence of hemoglob... OMIM:619769
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, High palate, Neutropenia, Umbilical hernia, Failure to thrive,... OMIM:614520
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... OMIM:119600
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Microdontia, Oral leukoplakia, Thromb... OMIM:224230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Optic atrophy, Retrognathia, Enamel hypoplasia, Failure to thrive, Th... OMIM:614576
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... OMIM:616050
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High palate, Arthrogr... ORPHA:85212
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Failure to thrive in infancy, Micrognathia... OMIM:611209
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Weight loss, Anemia, Glossoptosis, Cellulitis, Failure to thrive, Thrombo... ORPHA:47
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac... ORPHA:2136
Gapo Syndrome
Short stature, Dysmenorrhea, Oligozoospermia, Growth delay, Hypogonadism, Amenorrhea ORPHA:2067
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn... ORPHA:353281
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Akinesia, Micrognathia, Thrombocytopenia, Splenomegaly, Narrow mouth... OMIM:608013
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Large for gestational age, Thrombocytopenia, Wide mouth, Long philtrum,... OMIM:616638
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T ... OMIM:242900
Wars2-Related Combined Oxidative Phosphorylation Defect
Thin upper lip vermilion, Ataxia, Aggressive behavior, Dysmetria, Athetosis, High palate, Difficu... ORPHA:572798
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Smooth philtrum, Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume OMIM:300048
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Deep philtrum, Hepatosplenomegaly, Anemia,... OMIM:606003
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... ORPHA:54595
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Failure to thrive, Decreased proportio... OMIM:618048
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Oral leukoplakia, Thrombocytopenia ORPHA:3322
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Optic nerve hypoplasia, Micrognathia, Wide mouth, Increased mean corpuscular vol... ORPHA:261250
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Dysphagia OMIM:615750
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Carious teeth, Splenom... OMIM:608233
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cln3 Disease
Increased circulating androgen concentration, Dysphagia, Aggressive behavior, Depression ORPHA:228346
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Fluctuati... OMIM:610377
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, O... OMIM:300143
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Cog4-Cdg
Ataxia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Familial Adenomatous Polyposis 1
Carious teeth, Supernumerary tooth, Congenital hypertrophy of retinal pigment epithelium, Eruptio... OMIM:175100
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern... OMIM:268400
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Dengue Fever
Lethargy, Thrombocytopenia, Gingival bleeding, Leukopenia ORPHA:99828
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Thrombocytopenia, Optic atrophy, Osteoporosis, Exudat... OMIM:612199
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Protrud... ORPHA:98794
Hypophosphatasia, Adult
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Carious teeth, ... OMIM:146300
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... ORPHA:169090
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Recurrent... OMIM:150550
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Short stature, Dysphagia OMIM:300322
Preeclampsia
Small for gestational age, Thrombocytopenia ORPHA:275555
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Panniculi... OMIM:617591
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Thrombocytopenia, Splenomegaly, Optic atrophy, Flexion contracture, Leukopenia... OMIM:617303
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly, Everted lower lip vermilion, Dense calvaria, Hernia, Dysphagia, Rod-... OMIM:252930
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Rhabdoid Tumor
Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Rhizomelia, Oligozoospermia, Growth delay, Clitoral hypoplasia, Breast hypoplasia OMIM:614813
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... ORPHA:2108
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Broad-based gait, Ataxia, Inguinal hernia, ... ORPHA:268261
Pseudo-Torch Syndrome 1
Microretrognathia, Splenomegaly, Cleft lip, High palate, Long philtrum, Umbilical hernia, Failure... OMIM:251290
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Mi... ORPHA:1507
Tularemia
Thrombocytopenia, Leukocytosis, Oral ulcer, Anemia ORPHA:3392
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Small for gestational age, Pure red cell aplasia, Microgn... ORPHA:124
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Optic nerve hypoplasia, Craniosynostosis, Leukopenia, Hypodontia, Arth... OMIM:301056
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Long philtrum, Failure to thrive, Thrombocytopenia OMIM:608104
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:251000
Prolidase Deficiency
Micrognathia, Splenomegaly, Anemia, High palate, Failure to thrive, Thrombocytopenia OMIM:170100
Isolated Cleft Lip
Macrodontia, Small for gestational age, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:251110
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556030
Immune Thrombocytopenia
Gingival bleeding, Thrombocytopenia ORPHA:3002
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... OMIM:259730
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... OMIM:311200
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m... ORPHA:811
Immunodeficiency 22
Retinal vasculitis, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Fa... OMIM:615758
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Oligozoospermia, Growth del... ORPHA:125
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, D... OMIM:620370
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Gaucher Disease, Type I
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ... ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Microcytic anemia, Micrognathia, Splenomegaly, Supernumerary tooth, Osteoporosis... OMIM:619525
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Gardner Syndrome
Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit... ORPHA:79665
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Deep philtrum, Gin... ORPHA:534
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t... OMIM:612394
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Micrognathia, Trismus, Flexion contracture, Choreoathetosis, Leukopenia, Neutropenia, Thr... OMIM:616271
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Ataxia, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Optic atrophy,... ORPHA:79282
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Severe failure to thrive, Aplasia/Hypopla... ORPHA:423479
Pediatric-Onset Graves Disease
Hyperactivity, Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodi... ORPHA:525731
Angelman Syndrome
Mandibular prognathia, Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive beh... ORPHA:72
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Thick lower lip vermilion, Mesiodens, Dysmetria, Nonp... ORPHA:314647
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of ... OMIM:105830
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M... ORPHA:818
Snakebite Envenomation
Pseudobulbar paralysis, Neuromuscular dysphagia, Gingival bleeding, Thrombocytopenia ORPHA:449285
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Distal Deletion 12Q
Hyperactivity, Median cleft lip, Failure to thrive in infancy, Micrognathia, High, narrow palate,... ORPHA:96149
Autosomal Dominant Robinow Syndrome
Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Micrognath... ORPHA:3107
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Smooth philtrum, Megaloblastic anemia, Pigmentary retinopathy, Neutropenia, Lethargy, Failure to ... OMIM:277400
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Ataxia, Limb joint contracture, Splenomegaly, Flexion contracture, Gin... OMIM:301072
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Dental crowding, Micrognathia, High palate, Thick vermilion b... OMIM:619005
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Tented upper lip vermilion, Abnormal hemoglobin, Abnormality of the dentition, Flexion contractur... ORPHA:847
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Ataxia, Inabili... ORPHA:167
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Persisten... OMIM:300166
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteolysis, Corneal scarring, Atypical... OMIM:263700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Pulp calcification, Ta... OMIM:211900
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Thrombocytopenia, Abnormal primary molar morphology... ORPHA:1830
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Persistence of... OMIM:260400
Camurati-Engelmann Disease
Waddling gait, Delayed eruption of teeth, Ataxia, Anorexia, Cachexia, Carious teeth, Splenomegaly... ORPHA:1328
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Retrognathia, Abnormal repetitive mannerisms, Thrombo... ORPHA:457351
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Holoprosencephaly 9
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Hyperactivity, Sinusitis, Micrognathia, Malar prominence, Retinal pi... OMIM:251260
Griscelli Syndrome
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:381
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Anorexia, Throm... OMIM:557000
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia ORPHA:83601
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Gaucher Disease
Osteopenia, Increased bone mineral density, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly,... ORPHA:355
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Malar flattening, Protruding tongue, Absent frontal sinuses, Diastema, Red... OMIM:301040
Farber Disease
Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Macular degeneration, Ch... ORPHA:333
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Choreoat... OMIM:234200
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:619644
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplasia, Thromboc... OMIM:612541
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... ORPHA:93325
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Scarring, Anisocytosis, Increased c... ORPHA:79277
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Noonan Syndrome 4
Large for gestational age, Dental malocclusion, Wide mouth, Thick vermilion border, Thrombocytopenia OMIM:610733
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:251100
Ebola Hemorrhagic Fever
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Lig4 Syndrome
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Failure to thrive, Chronic... OMIM:606593
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Thrombocytopenia ORPHA:391673
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Alg12-Cdg
Retinal detachment, Thin upper lip vermilion, Micrognathia, Abnormal bone ossification, B lymphoc... ORPHA:79324
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Sagittal craniosy... OMIM:614188
Overlap Myositis
Leukopenia, Abnormality of connective tissue, Difficulty walking, Dysphagia, Thrombocytopenia ORPHA:206572
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... ORPHA:760
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Apc-Related Attenuated Familial Adenomatous Polyposis
Lipoma, Supernumerary tooth, Congenital hypertrophy of retinal pigment epithelium, Odontoma ORPHA:247806
Rift Valley Fever
Retinitis, Anorexia, Thrombocytopenia, Retinal hemorrhage, Macular edema, Retinal vasculitis, Gin... ORPHA:319251
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Athetosis, Malar flattening, Open mouth, Self-mutilation ORPHA:52503
African Trypanosomiasis
Aggressive behavior, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abn... ORPHA:3385
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Chand Syndrome
Ataxia, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of... ORPHA:1401
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Dyskeratosis Congenita
Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia of the maxilla, Thrombocytop... ORPHA:1775
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he... OMIM:122470
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia ORPHA:90024
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:267700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Micrognathia, Arthrogryposis multiplex congenita, Failure to thrive, T... OMIM:208085
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Normochromic anemia, Small for gestational age, Thrombocytopenia OMIM:618775
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Retinitis, Hamartoma of tongue, Micrognathia, Cleft lip, Supernum... OMIM:615948
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Ataxia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Fai... OMIM:603553
Gaucher Disease, Type Ii
Splenomegaly, Trismus, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia OMIM:230900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Thrombocytopenia, Flexion contracture, Op... ORPHA:505248
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Splenomegaly, Oral ulcer, Gingivitis, Neutropenia, Stomatitis, Failure to thriv... OMIM:308230
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit... ORPHA:733
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Osteolysis,... ORPHA:77261
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Increased... ORPHA:487796
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Lathosterolosis
Micrognathia, Anisopoikilocytosis, Abnormal platelet morphology, Gingival overgrowth, Downturned ... ORPHA:46059
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Diamond-Blackfan Anemia 21
Micrognathia, Erythroid hypoplasia, Obesity, Anemia, Narrow mouth, Thrombocytopenia OMIM:620072
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia OMIM:617397
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Anemia, Dysphagia, Thrombocytopenia ORPHA:169105
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Malar ... OMIM:210900
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Septo-optic dysplasia, Aplasia of the right hemi... OMIM:619841
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Aicardi-Goutieres Syndrome 1
Splenomegaly, Inability to walk, Self-mutilation, Thrombocytopenia OMIM:225750
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Carious teeth, Thrombocytopenia, Optic atrophy, Ost... OMIM:305000
Dubowitz Syndrome
Delayed eruption of teeth, Abnormality of neutrophils, Craniosynostosis, Micrognathia, Abnormalit... ORPHA:235
Mirage Syndrome
Radial club hand, Thrombocytopenia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lympho... OMIM:617053
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Flexion contracture, Loss of ambulation, D... ORPHA:666
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Cleft upper lip, Reticulocytopeni... OMIM:105650
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Dysphagia, Thrombocytopenia OMIM:254900
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 55
Anemia, High palate, Hypophosphatemic rickets, Open mouth, Thrombocytopenia OMIM:619743
8Q24.3 Microdeletion Syndrome
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Hyperactivity, Small for gestationa... ORPHA:508488
Mucopolysaccharidosis Type 2
Abnormal repetitive mannerisms, Oppositional defiant disorder, Retinal degeneration, Papilledema,... ORPHA:580
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, O... ORPHA:464321
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia OMIM:253270
Orofaciodigital Syndrome Type 14
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat... ORPHA:434179
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... ORPHA:79124
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Thro... OMIM:620005
Jacobsen Syndrome
Micrognathia, Flexion contracture, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, U-S... OMIM:147791
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Cryptorchidism, Oligozoospermia, Inappropriate behavior, Lisse... ORPHA:3310
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Deep philtrum, Non-midline cleft lip, Cl... ORPHA:647
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Catastrophic Antiphospholipid Syndrome
Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... ORPHA:464343
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Castleman Disease
Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, High palate, Retrognathia, Thrombocytopenia ORPHA:79330
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature OMIM:227650
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Atten... ORPHA:77293
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Shwachman-Diamond Syndrome 2
Normocytic anemia, High palate, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:617941
Deeah Syndrome
Decreased hemoglobin concentration, Narrow mouth, Dysphagia, Narrow palate, High palate, Short ph... OMIM:619004
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Neutrope... OMIM:227645
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit... ORPHA:97278
Fanconi Anemia, Complementation Group B
Aplastic anemia, Optic disc hypoplasia, Thrombocytopenia OMIM:300514
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Short philtrum, Abnormal dental enamel morphology, Obesit... ORPHA:567
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Inguinal hernia, Tented upper lip vermilion, Congenital diaphra... OMIM:614294
Fibular Hemimelia
Thrombocytopenia, Difficulty walking, Craniosynostosis, Abnormal bone ossification ORPHA:93323
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Kaposiform Lymphangiomatosis
Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia ORPHA:464329
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Pearson Syndrome
Reticulocytosis, Pancytopenia, Ataxia, Small for gestational age, Thrombocytopenia, Splenomegaly,... ORPHA:699
Grfoma
Neoplasm of the pancreas, Anorexia, Elevated circulating growth hormone concentration, Neoplasm o... ORPHA:97261
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Systemic Lupus Erythematosus
Hemolytic anemia, Oral ulcer, Cheilitis, Abnormal pigmentation of the oral mucosa, Leukopenia, Re... ORPHA:536
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Sepsis In Premature Infants
Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Decreased body weight... ORPHA:90051
Lysinuric Protein Intolerance
Splenomegaly, Osteoporosis, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Thrombocytopenia, Micrognathia ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Thrombocytopenia, Splenomegaly, Oral ulcer, Weight loss, Enlargement of parotid... ORPHA:50918
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Attention deficit hyperactivi... OMIM:227646
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Increased circulating myelocyte count, Cellulitis, Increased circulating me... ORPHA:36234
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosynostosis, Cleft up... OMIM:261540
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hypodontia OMIM:617088
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
Lysinuric Protein Intolerance
Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Ora... ORPHA:470
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Micrognathia, Cleft upper lip, Cleft palate, ... ORPHA:3103
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopeni... ORPHA:2072
Adams-Oliver Syndrome
Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Wilson Disease
Hemolytic anemia, Osteomalacia, Splenomegaly, Osteoporosis, Anemia, Dysphagia, Chondrocalcinosis,... OMIM:277900
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Ogden Syndrome
Microretrognathia, Thick upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Thin ... OMIM:300855
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... OMIM:268305
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... ORPHA:3260
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Thrombocytopenia ORPHA:99901
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Failure to thrive, Anemia OMIM:603467
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to... ORPHA:3455
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Lipodystrophy, Camptodactyly of finger, Parotitis, Microcytic anemia, Splenome... OMIM:256040
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Toxic Epidermal Necrolysis
Neutropenia, Weight loss, Anemia, Dysphagia, Polydipsia, Thrombocytopenia ORPHA:537
Hardikar Syndrome
Cleft soft palate, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Bilateral cleft... OMIM:301068
Shigellosis
Failure to thrive in infancy, Anorexia, Leukocytosis, Microangiopathic hemolytic anemia, Splenic ... ORPHA:810
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Short stature, Cryptorchidism, Long penis, Increased serum testosterone level, Hypop... OMIM:264090
Pseudoleprechaunism Syndrome, Patterson Type
Intrauterine growth retardation, Diabetes mellitus, Premature adrenarche, Increased circulating a... ORPHA:2976
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia OMIM:617718
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Hyperactivity, Impulsivity, Alveolar ridge overgrowth, Corneal scarring, ... ORPHA:642
Brucellosis
Small for gestational age, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly,... ORPHA:1304
Q Fever
Anorexia, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Thrombocytopenia ORPHA:781
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Dysphagia, Anemia ORPHA:36426
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Hashimoto thyroiditis, Postna... ORPHA:881
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Micrognathia, Aplasia/Hypoplasia of the uvula, Thromb... ORPHA:84
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Dysphagia, Lymphopenia, Thrombocytopenia ORPHA:319213
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Thrombocytopenia OMIM:251880
Tick-Borne Encephalitis
Anorexia, Leukocytosis, Leukopenia, Tongue fasciculations, Dysphagia, Thrombocytopenia ORPHA:297
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss, Enlargement of parotid gland, Abnormal optic nerve morphology, Abnormal salivary gla... ORPHA:79078
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:300972
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Short stature, Oral-pharyngeal dysphagia, Dysphagia, Hypohid... OMIM:219800
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Micrognathia, Splenomegaly, High, narrow palate, Obesity, Cleft ... OMIM:188400
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Jacobsen Syndrome
Inguinal hernia, Thrombocytopenia, Abnormal palate morphology, Attention deficit hyperactivity di... ORPHA:2308
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Cleft palate, Anemia, Short philtrum, Thrombocytopenia ORPHA:163979
Neuroleptic Malignant Syndrome
Leukocytosis, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Micrognathia, Leukocytosis, Cleft palate, Hepatosplenomegaly, Anemia, Malar flatten... OMIM:274000
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Anorexia, Aggressive behavior, Neutrophilia in presence of infectio... ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Anorexia, Splenomegaly, Leukocytosis, Retinal hemorrhage, ... ORPHA:99827
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Leptospirosis
Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool s... ORPHA:509
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Thrombocytopenia OMIM:615846
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proporti... ORPHA:289390
Sarcoidosis
Hemolytic anemia, Parotitis, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count, Bo... ORPHA:797
Microphthalmia, Syndromic 1
Dental crowding, Aggressive behavior, Cleft upper lip, High, narrow palate, Optic disc coloboma, ... OMIM:309800
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Agitation, Decreased body weight, Thrombocytopenia ORPHA:340
Noonan Syndrome 1
Male infertility, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypog... OMIM:163950
Aicardi-Goutières Syndrome
Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Chronic lymphatic... ORPHA:51
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Polydipsia, Thrombocytopenia ORPHA:731
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia, Thrombocytopenia ORPHA:466650
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:480520
Acute Liver Failure
Agitation, Ataxia, Thrombocytopenia ORPHA:90062
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia ORPHA:544482
Liver Disease, Severe Congenital
Inguinal hernia, Micrognathia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Umbilic... OMIM:619991
Cystic Fibrosis
Male infertility, Pancreatitis, Exocrine pancreatic insufficiency OMIM:219700
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829

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.

There is no histopathology data for Npepps

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 Npepps.

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

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MGI Allele Allele Type Produced
Npeppstm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Npeppsem1(IMPC)Hmgu Exon Deletion Mice
Npeppstm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npeppstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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