Gene Summary

Name:
aminopeptidase puromycin sensitive
Synonyms:
MP100,  Psa

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Npeppsem1(IMPC)Hmgu HOM   Early adult 6.88×10-05
abnormal bone structure Npeppsem1(IMPC)Hmgu HOM Early adult 5.53×10-10
hypoactivity Npeppsem1(IMPC)Hmgu HOM   Early adult 6.74×10-08
thrombocytopenia Npeppsem1(IMPC)Hmgu HOM Early adult 3.53×10-05
increased grip strength Npeppsem1(IMPC)Hmgu HOM Early adult 8.20×10-09
decreased erythrocyte cell number Npeppsem1(IMPC)Hmgu HOM Early adult 4.85×10-05
decreased vertical activity Npeppsem1(IMPC)Hmgu HOM Early adult 8.66×10-08
decreased total retina thickness Npeppsem1(IMPC)Hmgu HOM Early adult 9.44×10-43
increased lean body mass Npeppsem1(IMPC)Hmgu HOM Early adult 1.80×10-05
abnormal retina morphology Npeppsem1(IMPC)Hmgu HOM Early adult 3.09×10-21
absent teeth Npeppsem1(IMPC)Hmgu HOM Early adult 6.88×10-05
decreased total body fat amount Npeppsem1(IMPC)Hmgu HOM Early adult 2.06×10-06
decreased bone mineral content Npeppsem1(IMPC)Hmgu HOM   Early adult 2.34×10-06
abnormal tooth morphology Npeppsem1(IMPC)Hmgu HOM Early adult 7.20×10-20
decreased hemoglobin content Npeppsem1(IMPC)Hmgu HOM   Early adult 3.16×10-05

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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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Impaired social interactions, Male hypogonadism, Increased circulating gonadotrop... ORPHA:163976
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonado... ORPHA:163971
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Abnormality of ... ORPHA:261534
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Primary amenorrhea, Decrease... OMIM:614841
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Azoospermia, Abnormality of the test... ORPHA:99330
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Decreased serum testosterone concentration, Irritability, Short stature, Decr... OMIM:201100
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Growth delay, Pitu... ORPHA:95619
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Decreased body weight, Hyperactivity OMIM:616311
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Decreased serum testosterone concentration, Hyperintensity of cerebral... ORPHA:101006
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Short stature, Reduced circulating pro... OMIM:262600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Insulin-Like Growth Factor I Deficiency
Osteopenia, Micrognathia, Decreased body weight, Hyperactivity OMIM:608747
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Oliver-Mcfarlane Syndrome
Cryptorchidism, Severe short stature, Delayed puberty, Hypoplasia of penis, Hypogonadotropic hypo... OMIM:275400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Osteopetrosis, Thrombocyt... ORPHA:2785
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Apathy, Testicular atrophy, Decrea... ORPHA:465508
Leptin Receptor Deficiency
Aggressive behavior, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary ... OMIM:614963
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Micropenis, Hypoplasia of the fallop... ORPHA:3464
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Mild short stature, Bilateral cry... OMIM:305400
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Growth delay, Pituitary dwarfism, Decreased response to growth hormone stimuation... OMIM:262710
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Wolfram-Like Syndrome
Male hypogonadism, Depression, Hypothyroidism, Delayed puberty, Anxiety, Severe postnatal growth ... ORPHA:411590
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Pituitary dwarfism, Severe short st... OMIM:262400
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
Malaria
Thrombocytopenia, Retinopathy, Gait imbalance, Anemia ORPHA:673
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Isolated Growth Hormone Deficiency, Type Ib
Short stature, Decreased response to growth hormone stimuation test OMIM:612781
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Short stature, Postnatal growth retardation, Decreased response to growth hormone s... OMIM:618160
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spastic Paraplegia 26, Autosomal Recessive
Cerebral cortical atrophy, Decreased serum testosterone concentration, Emotional lability OMIM:609195
Isolated Growth Hormone Deficiency, Type Ii
Pituitary dwarfism, Severe short stature, Decreased response to growth hormone stimuation test OMIM:173100
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Short stature, Micropenis, Decreased response to grow... OMIM:616784
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Osteopetrosis, Persistence of... OMIM:259710
Mehmo Syndrome
Male hypogonadism, Aggressive behavior, Hypoplasia of the corpus callosum, Delayed puberty, Birth... OMIM:300148
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Short stature, Decreased response to growth hormone stimuatio... OMIM:300123
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Increased bone mi... ORPHA:3352
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Anemia, Failure to thrive, Os... OMIM:617475
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Grow... ORPHA:90695
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resista... ORPHA:2959
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Bone Marrow Failure Syndrome 5
Hypogonadism, Microcephaly, Testicular atrophy, Short stature OMIM:618165
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Thrombocytopenia, Failure to thrive, Malar flattening OMIM:614727
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive, Optic atrophy OMIM:615085
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Agyria, Micropenis, Agenesis o... OMIM:300067
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Decreased circulating T4 level, Growth delay, Pituitary hypothyroidism, Decreased cir... ORPHA:99832
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Sotos Syndrome 3
Mandibular prognathia, Hyperactivity OMIM:617169
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Unsteady gait... OMIM:159550
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Amenorrhea... ORPHA:251937
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head morphology, Abn... ORPHA:320391
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation, Intrauterine growth retardation... OMIM:614732
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, Everted lower lip vermilion, Smooth philtrum, Abnormality of the dent... OMIM:618342
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva, Eosinophilia ORPHA:517
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Ataxia, Increased bone m... OMIM:136300
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Smooth philtrum, Hyperactivity OMIM:301013
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, High palate, Retrognathia, Optic atrophy OMIM:300983
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Papilledema, Supernumer... OMIM:614188
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, Cerebral calcification, Short stature, Decreased response to growth hormone stimuat... ORPHA:1261
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Retinal dystrophy, Thrombocytopenia, Optic atrophy ORPHA:49827
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:98754
Folate Malabsorption, Hereditary
Oral ulcer, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukop... OMIM:229050
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Oligomenorrhea, Amenorrh... ORPHA:91355
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:98793
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Short stature, Decreased testicular... ORPHA:280679
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Fa... OMIM:615285
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, Hyperactivity, High palate, Denta... OMIM:613684
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:177904
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Short stature, Primary amenorrhea OMIM:233400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:177901
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Rod-cone dystrophy, Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Ataxia, Retinal degeneration, Cone/cone-rod dystrophy, ... OMIM:249270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive, Optic... ORPHA:79312
Nance-Horan Syndrome
Mandibular prognathia, Retinal detachment, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Impaired social interactions, Reduced sperm moti... ORPHA:330015
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly, Optic... OMIM:611490
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Wt Limb-Blood Syndrome
Joint contracture of the 5th finger, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Retrogna... OMIM:194350
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Pseudopapilledema, Supernumerary tooth, Fail... OMIM:264475
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia OMIM:619302
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Emotional lability, Secondary amenorrhea, De... OMIM:603896
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Generalized Glucocorticoid Resistance Syndrome
Infertility, Increased urinary cortisol level, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Primary amenorrh... OMIM:300068
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Optic atrophy ORPHA:289916
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density, Gait disturbance, Abnormality of the dentition, Carious teeth ORPHA:2501
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Reduced sperm motility, Short stature OMIM:602271
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Anterior pituitary hypoplasia... OMIM:618157
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Depression, Microcephaly, Anxiety, Short stature, Decreased testicular size, Mic... ORPHA:457240
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Isosexual precocious puberty, Sho... OMIM:176400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:208080
Ck Syndrome
Slender build, Dental crowding, Abnormal cortical bone morphology, Hyperactivity, High palate, Re... OMIM:300831
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Temple Syndrome
Cryptorchidism, Postnatal growth retardation, Type II diabetes mellitus, Short stature, Precociou... ORPHA:254516
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Optic atrophy, Macrocytic anemia ORPHA:27
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, Is... ORPHA:759
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Intrauterine growth retardation, Clitoral hyper... ORPHA:96181
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:398073
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Dystonia, Chronic neutropenia OMIM:619301
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Short stature, Decreased testicular size, Decreased ... OMIM:300845
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Steinert Myotonic Dystrophy
Male hypogonadism, Impairment in personality functioning, Emotional lability, Cerebral cortical a... ORPHA:273
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormality of dental morphology, Selective t... ORPHA:1897
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Attention defici... OMIM:619151
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Thin vermilion border, Narrow palate, Narrow mouth, Everted lower lip ver... OMIM:234100
Alazami-Yuan Syndrome
Long philtrum, Narrow mouth, Dental crowding, Thin upper lip vermilion, Hyperactivity, High palate OMIM:617126
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thr... OMIM:259700
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Jalili Syndrome
Cone/cone-rod dystrophy, Amelogenesis imperfecta, Carious teeth, Optic disc pallor OMIM:217080
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Xq25 Microduplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border, Hyperactivity ORPHA:521258
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Xq25 Duplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border, Hyperactivity OMIM:300979
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Central adrenal insufficiency, Decrease... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Growth delay, Pituitary hypothyroidism, Central adrenal insufficiency, Decrease... ORPHA:71526
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Aggressive behavior, Low frustration tolerance, Impulsivity, Prim... ORPHA:99329
Pseudohypoparathyroidism Type 1C
Oligomenorrhea, Hypergonadotropic hypogonadism, Pseudohypoparathyroidism, Depression, Basal gangl... ORPHA:79444
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Pseudopapilledema, Sma... ORPHA:2980
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Intermediate Osteopetrosis
Cortical sclerosis, Abnormality of dental morphology, Optic atrophy from cranial nerve compressio... ORPHA:210110
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Dental crowding, Smooth philtrum, Thin upper lip vermilion, Supernumerary tooth, O... OMIM:190351
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Camptodactyly, Smooth philtrum, Failure to thrive in infancy,... OMIM:611209
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Neutropenia, Thrombocytopenia, Inguinal hernia, Anemia, Micrognathia OMIM:614857
Chromosome 3Q29 Deletion Syndrome
Short philtrum, Gait ataxia, Thin upper lip vermilion, Small for gestational age, Failure to thri... OMIM:609425
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Shor... ORPHA:2183
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft upper lip, Cl... OMIM:614294
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Severe short stature, Decreased response to growth hormone stimuation test OMIM:225755
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cerebral calcification, Growth delay OMIM:613987
4H Leukodystrophy
Hypoplasia of the corpus callosum, Delayed puberty, Hyperintensity of cerebral white matter on MR... ORPHA:289494
Coffin-Siris Syndrome 8
Thin upper lip vermilion, Thick lower lip vermilion, Failure to thrive, Hyperactivity OMIM:618362
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia, Leukoencephalopathy OMIM:613724
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Gaucher Disease, Type Iii
Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Cleidocranial Dysplasia
Osteoporosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Optic atrophy OMIM:598500
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Spl... ORPHA:3473
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Anterior hypopituitarism, Megalencephaly, Abnormal corpus c... ORPHA:280195
Aicardi-Goutieres Syndrome 4
Dystonia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:610333
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Bicoronal synost... OMIM:604757
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Decreased response to growth hormone stimuation test ORPHA:1263
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia, Ataxia OMIM:613839
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Arthrogryposis multiplex congenita, Narrow mouth, Joint contracture of the 5th fi... ORPHA:352490
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618187
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Macroorchidism, Irritability, Short stature, Abn... ORPHA:3077
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorrhage, Gingi... ORPHA:88
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Failure to thrive in infancy ORPHA:858
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Oral leukoplakia, Carious teeth, Lymphopenia, Ataxia, Thrombocytopenia, Aplastic an... OMIM:127550
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocyt... OMIM:259720
Ebola Hemorrhagic Fever
Thrombocytopenia, Lethargy, Leukopenia, Gingival bleeding ORPHA:319218
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Aggressive behavior, Absence of labia majora, Decreased serum testosterone concen... ORPHA:495875
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Reduced bone mineral density, Anemia, Splenomegaly, Abnormal... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Short stature, Decreased response to growth hormone stimuation test OMIM:616430
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Retinal dystrophy, Reduced bone mineral d... OMIM:617052
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Pseudohypoparathyroidism Type 1A
Oligomenorrhea, Hypergonadotropic hypogonadism, Pseudohypoparathyroidism, Depression, Basal gangl... ORPHA:79443
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Short stature, Microcephaly, Agenesis of corpus callosum, Decreased response... OMIM:615286
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Agenesis of corpus callosum, Gonadal tissue inappropriate for e... ORPHA:261519
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Pelger-Huet Anomaly
Abnormality of neutrophils, Neutropenia, Abnormality of the dentition, Hyposegmentation of neutro... OMIM:169400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Isolated Agammaglobulinemia
Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia,... ORPHA:229717
Clark-Baraitser Syndrome
Long philtrum, Downturned corners of mouth, Wide mouth, Hyperactivity, High palate, Obesity OMIM:617752
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Isovaleric Acidemia
Thrombocytopenia, Lethargy, Pancytopenia, Leukopenia OMIM:243500
Gaucher Disease, Type Ii
Trismus, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:230900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Impaired social interactions, Maturity-onset diabetes of the young, Poor eye contact, Postnatal g... ORPHA:254531
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis, Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Oral leukoplakia, Ataxia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopen... OMIM:613990
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Thrombocytopenia, Ocular albinism, Leukopenia OMIM:614171
Camurati-Engelmann Disease
Slender build, Carious teeth, Mandibular prognathia, Cortical thickening of long bone diaphyses, ... OMIM:131300
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Coffin-Siris Syndrome 7
Short philtrum, Wide mouth, Thin upper lip vermilion, Microdontia, Sagittal craniosynostosis, Hyp... OMIM:618027
Fraxe Intellectual Disability
Thick vermilion border, Hyperactivity ORPHA:100973
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Gait ataxia OMIM:254900
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Bilateral cryptorchidism, Postnatal growth retardation, Intrauterine gro... ORPHA:96179
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Glossitis, Megaloblastic anemia, Stomatitis, Neutropenia, Thin upper lip vermilion, Pan... OMIM:277380
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Drooling, Mandibular prognathia, Wide mouth, Ataxia, Obesity, Hyperactivity, Broad-based gait ORPHA:411515
Congenital Disorder Of Glycosylation, Type Iif
Short philtrum, Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet ... OMIM:603585
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Open mouth, Downturned corners of mouth, Everted lower lip vermilion, Unsteady gait, Failure to t... OMIM:617865
Cyclic Neutropenia
Cellulitis, Oral ulcer, Decreased eosinophil count, Tooth abscess, Periodontitis, Premature loss ... ORPHA:2686
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Short ... OMIM:612650
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Mental Retardation, Autosomal Recessive 13
Short philtrum, Downturned corners of mouth, Smooth philtrum, Truncal obesity, Cleft upper lip, H... OMIM:613192
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Adrenal insufficiency, Adrenocorticotropic hormone d... OMIM:609734
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Short stature, Anteri... OMIM:221750
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Aggressive behavior, Decreased... ORPHA:85327
Ck Syndrome
Slender build, Dental crowding, Microretrognathia, Hyperactivity, High palate, Malar flattening ORPHA:251383
Mental Retardation, Autosomal Dominant 43
Narrow mouth, Hyperactivity OMIM:616977
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Dystonia, Splenomegaly OMIM:615846
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Congenital finger flexion contractures, High, narrow palate, Incisor ... ORPHA:166108
Leishmaniasis
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnorm... ORPHA:507
Autoinflammatory Syndrome, Familial, Behcet-Like
Oral ulcer, Lymphopenia, Thrombocytopenia, Hemolytic anemia OMIM:616744
Mental Retardation, Autosomal Recessive 61
Conical tooth, High palate, Mandibular prognathia, Hyperactivity OMIM:617773
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Gait disturbance, Periodontitis, Impaired neutrophil b... OMIM:214500
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Thin upper lip vermilion, Hyperactivity, High palate OMIM:300558
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Immunodeficiency 10
Autoimmune hemolytic anemia, Amelogenesis imperfecta, Thrombocytopenia OMIM:612783
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Deep philtrum, Micrognathia, Increased bone mineral density ORPHA:1237
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, Hyperact... ORPHA:248111
Propionic Acidemia
Osteoporosis, Dystonia, Lethargy, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Failure to... OMIM:606054
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Micrognathia OMIM:188025
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytopenia, Opt... OMIM:222300
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Flexion contracture, Wide mouth, Inguinal hernia, Hip contracture, Knee flexion cont... OMIM:616809
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal palate morphology,... ORPHA:100026
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Disproportionate short stature, Breast hypoplasia, Oligospermia, Growth delay, Clitoral hypoplasi... OMIM:614813
Non-Syndromic Posterior Hypospadias
Androgen insufficiency, Cryptorchidism, Bifid scrotum, Depression, Ventral shortening of foreskin... ORPHA:95706
Robinow Syndrome
Cryptorchidism, Webbed penis, Scrotal hypoplasia, External genital hypoplasia, Clitoral hypoplasi... ORPHA:97360
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Supernumerary tooth, High, narrow palate, Micrognathia, Malar ... ORPHA:1787
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Schwartz-Jampel Syndrome
Pursed lips, Arthrogryposis multiplex congenita, Narrow mouth, Odontogenic neoplasm, Increased bo... ORPHA:800
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Abnormal palate morphology, Deep philtrum, Abnormality of the dentition, Thin uppe... ORPHA:502
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombo... OMIM:173470
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Anxiety, Short stature, Decreased response to ... OMIM:609757
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Cleft palate OMIM:616738
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy ORPHA:141184
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Anemia, Os... OMIM:242900
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Obesity, Hyperactivity, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Abnormality of the dentition, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leuk... OMIM:613989
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets, Gingival ble...