Gene Summary

Name:
fibronectin type III domain containing 3A
Synonyms:
Fndc3,  F730017H24Rik,  1700094E19Rik,  D14Ertd453e,  sys

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
increased freezing behavior Fndc3aem1(IMPC)Tcp HOM Early adult 3.33×10-10
increased leukocyte cell number Fndc3aem1(IMPC)Tcp HOM Early adult 9.57×10-09
increased lymphocyte cell number Fndc3aem1(IMPC)Tcp HOM Early adult 4.21×10-10
male infertility Fndc3aem1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Fndc3aem1(IMPC)Tcp HOM Early adult 1.50×10-06
decreased body length Fndc3aem1(IMPC)Tcp HOM   Early adult 2.12×10-05
decreased circulating serum albumin level Fndc3aem1(IMPC)Tcp HOM Early adult 8.47×10-05
decreased heart weight Fndc3aem1(IMPC)Tcp HOM Early adult 1.60×10-05
short tibia Fndc3aem1(IMPC)Tcp HOM Early adult 1.25×10-10
decreased locomotor activity Fndc3aem1(IMPC)Tcp HOM   Early adult 5.39×10-06
increased circulating alanine transaminase level Fndc3aem1(IMPC)Tcp HOM Early adult 6.86×10-06
decreased bone mineral content Fndc3aem1(IMPC)Tcp HOM Early adult 1.51×10-12
cataract Fndc3aem1(IMPC)Tcp HOM   Early adult 7.85×10-05
increased total body fat amount Fndc3aem1(IMPC)Tcp HOM Early adult 1.29×10-17
abnormal retina vasculature morphology Fndc3aem1(IMPC)Tcp HOM Early adult 5.28×10-06
abnormal retina blood vessel morphology Fndc3aem1(IMPC)Tcp HOM Early adult 8.30×10-06
decreased exploration in new environment Fndc3aem1(IMPC)Tcp HOM   Early adult 6.60×10-05
decreased lean body mass Fndc3aem1(IMPC)Tcp HOM Early adult 2.88×10-18

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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.

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

107 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Fndc3a 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 Fndc3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
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
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Nondisjunction
Decreased fertility OMIM:158250
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Dysplasia Of Head Of Femur, Meyer Type
Flattened femoral head, Multicentric femoral head ossification, Leukocytosis, Congenital hip disl... ORPHA:168621
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Fibular Hemimelia
Craniosynostosis, Structural foot deformity, Talipes equinovalgus, Arthralgia of the hip, Thrombo... ORPHA:93323
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy OMIM:300719
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Alg6-Cdg
Failure to thrive, Ataxia, Retinal degeneration, Shortening of all distal phalanges of the finger... ORPHA:79320
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Pes cavus, E... OMIM:208920
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Vacuolated ly... OMIM:204200
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microcytic anemia, Cataract, Hypoalbuminemia, Dilated cardiomyopathy, Failure t... OMIM:618805
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, Step... ORPHA:94124
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cognitive impairment, Brachydactyly, Retinal dystrophy, Cataract, Obesity OMIM:615995
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hypoproteinemia, Increas... OMIM:267700
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Slc35A2-Cdg
Inability to walk, Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin lev... ORPHA:356961
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... OMIM:264300
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... OMIM:607143
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... ORPHA:292
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Abetalipoproteinemia
Corneal ulceration, Ataxia, Osteopenia, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fu... ORPHA:14
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... ORPHA:891
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Galloway-Mowat Syndrome 6
Decreased body weight, Clinodactyly of the 5th finger, Hypoalbuminemia, Paroxysmal bursts of laug... OMIM:618347
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Flared iliac wing, Splenomegaly, Flexion contracture, Me... OMIM:617303
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hypoproteinemia, Hemopha... OMIM:603553
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... ORPHA:247585
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... ORPHA:1667
Aicardi-Goutieres Syndrome 9
Failure to thrive, Self-mutilation, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular h... OMIM:619487
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Morm Syndrome
Truncal obesity, Retinal dystrophy, Cataract, Retinal atrophy, Aggressive behavior ORPHA:75858
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentrat... OMIM:608104
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volu... ORPHA:86839
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Rod-cone dystrophy, Flexion contracture, Hypergonadotropic hypogonadis... OMIM:212065
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Short long bone, Clinodactyly ... ORPHA:79324
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Flynn-Aird Syndrome
Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Increased bon... OMIM:136300
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Arthralgia of the hip, Genu valgum, Pedal edema, Cataract, Double-layered patel... ORPHA:166011
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone mineral d... ORPHA:3156
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Classic Galactosemia
Gait imbalance, Ataxia, Reduced bone mineral density, Depression, Mental deterioration, Oligomeno... ORPHA:79239
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Depression, Anxiety, Abnormal circ... ORPHA:89842
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... OMIM:246700
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Ventricular septal defect, Di... OMIM:616730
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia, Periostosis, Hyperostosis OMIM:614441
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, R... ORPHA:2611
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Cachexia, Pes cavus, Attenuation of retinal blood vessels, O... OMIM:610965
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, S... ORPHA:93296
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Retinal detachment, Irregular epiphyses, Flattened epiphys... ORPHA:1856
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finger, Short lower li... OMIM:127200
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... ORPHA:64743
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Hypergonadotropic hypogonadism, Depression, Pigmentary retinopathy, E... OMIM:614307
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, Palm... OMIM:242150
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Abnormal pericardium morphology, Constrictive pericarditis, Weight loss, Hypoalbumi... ORPHA:67
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... ORPHA:103910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Elevated circulating creatine kinase concentration, Optic atrophy, Cataract,... OMIM:613154
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Galactosemia
Gait imbalance, Failure to thrive, Ataxia, Reduced bone mineral density, Cognitive impairment, In... ORPHA:352
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux, Enamel hypoplasia, S... OMIM:251190
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Galloway-Mowat Syndrome 1
Ataxia, Talipes equinovarus, Slender finger, Hiatus hernia, Joint contracture of the hand, Small ... OMIM:251300
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Atrial septal defect, Flexion contracture... ORPHA:505248
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Abnormal retinal vascular morphology, Cognitive impairment, Depression, Macular edema, An... ORPHA:247691
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Joint contracture of the hand, Atrial septal defect, Coronal craniosynostosi... OMIM:235510
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hepatosplenomegaly, Dilated cardiomyopathy, Hypoalbuminem... ORPHA:367
Phenylketonuria
Blue irides, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylala... OMIM:261600
Al Amyloidosis
Abnormal heart morphology, Abnormal cardiac ventricle morphology, Autonomic erectile dysfunction,... ORPHA:85443
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Attenuat... OMIM:615986
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Chorioretinal hyperpigmentation, Progressive neurologic deterioration, Optic a... OMIM:618329
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Axial Spondylometaphyseal Dysplasia
Osteopenia, Retinal dystrophy, Upper limb undergrowth, Optic atrophy, Cataract, Narrow greater sc... ORPHA:168549
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Abscess, Elevated circulating cr... ORPHA:36234
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Retinal thinning, Asteroid hyalosis, Short phalanx of finger... OMIM:132450
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... ORPHA:1106
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... OMIM:609945
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neuraminidase Deficiency
Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Inguinal hernia, Dysmetria, ... OMIM:256550
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Wilson Disease
Increased circulating copper concentration, Dementia, Hyperbilirubinemia, Splenomegaly, Chondroca... OMIM:277900
Peroxisome Biogenesis Disorder 9B
Ataxia, Rod-cone dystrophy, Pes cavus, Elevated levels of phytanic acid, Cataract, Cardiomyopathy OMIM:614879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:264700
Pseudopseudohypoparathyroidism
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Cataract, Obesity, Short me... OMIM:612463
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Pseudohypoparathyroidism, Type Ia
Short toe, Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tet... OMIM:103580
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... OMIM:180080
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Trichohepatoenteric Syndrome 1
Failure to thrive, Splenomegaly, Pulmonic stenosis, Small for gestational age, Cognitive impairme... OMIM:222470
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Marinesco-Sjögren Syndrome
Ataxia, Abnormality of finger, Hip dysplasia, Avascular necrosis of the capital femoral epiphysis... ORPHA:559
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:600081
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival icterus, Hypoalbum... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbum... ORPHA:529808
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Kniest Dysplasia
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Inguinal hernia, Flar... OMIM:156550
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Short fourth metatarsal, Pes cavus, Elevated le... OMIM:266500
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Microcornea, Cataract, Anterior bowing of long bones, Bow... OMIM:255800
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Scarring, Corneal opacity, Craniosynostosis, Enamel hypoplasia, Hypoalbuminemi... ORPHA:79396
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Cach Syndrome
Apathy, Optic neuritis, Irritability, Flexion contracture, Limb ataxia, Dysmetria, Cognitive impa... ORPHA:135
Juvenile Polyposis Of Infancy
Atrial septal defect, Cachexia, Clubbing of fingers, Broad thumb, Midclavicular hypoplasia, Hypoa... ORPHA:79076
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Smith-Lemli-Opitz Syndrome
Self-mutilation, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Cataract, Epi... OMIM:270400
Marburg Hemorrhagic Fever
Hypokalemia, Orchitis, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kin... ORPHA:99826
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:277440
Hypergonadotropic Hypogonadism-Cataract Syndrome
Reduced bone mineral density, Hypergonadotropic hypogonadism, Primary amenorrhea, Osteoporosis, C... ORPHA:2410
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Depression, Mental deterioration, Elevated circulating creatine kinase concentration, Pig... ORPHA:79095
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperp... OMIM:612462
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:37042
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... ORPHA:166016
Alpha-Mannosidosis, Adult Form
Corneal opacity, Ataxia, Depression, Osteopenia, Hepatosplenomegaly, Anxiety, Optic disc pallor, ... ORPHA:309288
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Impotence, Cataract, Cardiomyopathy, Anemia, Elevat... OMIM:606069
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Irritability, Increased bone mineral density, Depression, Anx... ORPHA:94089
Omodysplasia 1
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... OMIM:258315
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Pedal edema, Weight loss, Hypoalbu... ORPHA:88673
Galloway-Mowat Syndrome 3
Failure to thrive, Hiatus hernia, Arachnodactyly, Micrognathia, Camptodactyly, Hypoalbuminemia, H... OMIM:617729
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Kniest Dysplasia
Flexion contracture of finger, Abnormal bone structure, Cataract, Dumbbell-shaped long bone, Shor... ORPHA:485
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:255249
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Irritabi... ORPHA:289157
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Short 3rd metacarpal, Cataract, Calcinosis, Broad distal phalanx ... ORPHA:79444
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... ORPHA:1988
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Retinal dystro... OMIM:263520
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... OMIM:241530
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... OMIM:617925
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Inguinal hernia, Metaphyseal widening, Attenuation of retinal blood vessels, Br... OMIM:614376
Galactokinase Deficiency
Failure to thrive, Nuclear cataract, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypergonadotropic hypogonadism, Short 3rd metacarpal, Cataract, Calcinosis, Bro... ORPHA:79443
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Reduced bone mineral density, Sm... OMIM:613658
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ... ORPHA:2298
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia, Anemia, Clubbing OMIM:174900
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostosis, Increased ... OMIM:259720
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Mevalonic Aciduria
Failure to thrive, Ataxia, Elevated circulating C-reactive protein concentration, Nuclear catarac... OMIM:610377
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Multiple joint contractures, Broad-based gait, Band keratopathy, ... ORPHA:2959
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
Autoimmune Hypoparathyroidism
Hypocalcemia, Irritability, Increased bone mineral density, Depression, Anxiety, Hypocalcemic tet... ORPHA:36913
Muscle-Eye-Brain Disease
Cognitive impairment, Elevated circulating creatine kinase concentration, Optic atrophy, Gait dis... ORPHA:588
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Small for... OMIM:619055
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr... ORPHA:186
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Mietens Syndrome
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Hypoplasia of the radius,... ORPHA:2557
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Constrict... ORPHA:90363
Congenital Sialidosis Type 2
Corneal opacity, Ataxia, Cherry red spot of the macula, Inguinal hernia, Dysmetria, Hepatosplenom... ORPHA:93400
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Primary Sclerosing Cholangitis
Splenomegaly, Depression, Osteopenia, Hepatosplenomegaly, Osteoporosis, Hypoalbuminemia, Weight loss ORPHA:171
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... OMIM:609441
Spondyloocular Syndrome
Decreased body weight, Atrial septal defect, Osteopenia, Retinal detachment, Long fingers, Mitral... OMIM:605822
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Atrioventricular canal defect, Osteopenia, Ventricu... OMIM:619534
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pericardial ef... OMIM:618183
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Retinal dystr... OMIM:209900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Ataxia, Limited mobility of proximal interphalangeal jo... OMIM:222300
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... OMIM:300554
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Lymphopenia, Inguinal hernia, Abnormal circulating lipid concentration,... OMIM:616541
Usher Syndrome
Ataxia, Abnormality of retinal pigmentation, Cognitive impairment, Depression, Anxiety, Astigmati... ORPHA:886
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Proteus-Like Syndrome
Genu recurvatum, Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Sha... ORPHA:2969
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ataxia, Retinal degeneration, Optic atrophy, Genu valgum, Catar... ORPHA:581
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Hypochromic anemia, Arachnodactyly, Reduced bone mineral density, Abnorm... ORPHA:2720
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... OMIM:227270
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... ORPHA:171844
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Ankle swe... ORPHA:514
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Osteopenia, Micrognathia, Congenital hip dislocation, Optic atrophy, Cataract,... OMIM:617913
Werner Syndrome
Retinal degeneration, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Hypert... OMIM:277700
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Ivic Syndrome
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... OMIM:600002
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Cataract,... ORPHA:959
Primary Ciliary Dyskinesia
Abnormal heart morphology, Double outlet right ventricle, Female infertility, Anomalous pulmonary... ORPHA:244
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... OMIM:228520
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute my... ORPHA:86843
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Multiple joint contractures, Ataxia, Failure to thrive, ... ORPHA:79318
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cataract, Bowing of the long bones, Omphalocele, Carpal synos... ORPHA:90652
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Cachexia, Eosinophili... ORPHA:75565
Charge Syndrome
Self-mutilation, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Catar... OMIM:214800
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning glory anomaly, ... OMIM:612109
Fanconi Anemia, Complementation Group A
Neutropenia, Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Absent radi... OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, B lymphocytopenia, Rhizomelic arm shorteni... ORPHA:508542
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Talipes equinovarus, Inguinal hernia, Retinal coloboma, Abnormal righ... ORPHA:500095
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Lipodystrophy,... OMIM:617099
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Pedal edema, Hypoalbuminemia ORPHA:567546
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... ORPHA:231222
Fabry Disease
Abnormality of femur morphology, Corneal opacity, Hyperlipidemia, Reduced bone mineral density, D... ORPHA:324
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Transketolase Deficiency
Self-injurious behavior, Atrial septal defect, Ventricular septal defect, Secondary amenorrhea, C... ORPHA:488618
Weill-Marchesani Syndrome 2
Thin bony cortex, Ventricular septal defect, Iridodonesis, Cataract, Umbilical hernia, Ectopia le... OMIM:608328
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Cushing Disease
Amenorrhea, Abdominal obesity, Lymphopenia, Leukocytosis, Depression, Increased body weight, Olig... ORPHA:96253
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Retinal degeneratio... OMIM:208500
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Corneal crystals, Genu valgum, Weight loss, Failure to thriv... OMIM:219800
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary ... ORPHA:958
Dent Disease
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Bowing of the ... ORPHA:1652
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... ORPHA:279914
Sponastrime Dysplasia
Genu valgum, Rhizomelia, Hip subluxation, Small epiphyses, Cataract, Microcoria, Short long bone,... ORPHA:93357
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Micrognathia, Retinal neovascularization OMIM:619074
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... ORPHA:911
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... ORPHA:67043
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Opacification of the corneal stroma, Mesomelic arm shorte... OMIM:113470
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... OMIM:106210
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency