Gene Summary

Name:
forkhead box N1
Synonyms:
whn,  Hfh11,  D11Bhm185e

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
abnormal skin morphology Foxn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrometra Foxn1tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Foxn1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
small superior vagus ganglion Foxn1tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal thymus morphology Foxn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
athymia Foxn1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

Adult LacZ

LacZ Images Section

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Foxn1 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.

The table below shows human diseases associated to Foxn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy OMIM:618806

The table below shows human diseases predicted to be associated to Foxn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Absent toenail, Onychogryposis of fingernail, Onychogryposis, Dystrophic toenail, Dystrophic fing... ORPHA:158676
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Pili Gemini
Abnormal hair laboratory examination, Hair shafts flattened at irregular intervals and twisted th... ORPHA:79492
Mammary-Digital-Nail Syndrome
Nail dysplasia, Anonychia, Nail dystrophy OMIM:613689
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Nail Disorder, Nonsyndromic Congenital, 8
Dystrophic toenail OMIM:607523
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Nail dystrophy OMIM:615425
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Absent toenail, Dystrophic fingernails OMIM:614927
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Epidermolysis Bullosa Simplex With Nail Dystrophy
Nail dystrophy OMIM:616487
Nail Disorder, Nonsyndromic Congenital, 6
Nail dysplasia, Anonychia, Nail dystrophy OMIM:107000
Epidermolysis Bullosa Pruriginosa
Nail dysplasia, Nail dystrophy OMIM:604129
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Epidermolysis Bullosa Dystrophica, Autosomal Dominant
Nail dysplasia, Nail dystrophy OMIM:131750
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Nail dysplasia, Nail dystrophy OMIM:132000
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Epidermolysis Bullosa Dystrophica Neurotrophica
Nail dysplasia, Nail dystrophy OMIM:226500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Epidermolysis Bullosa Simplex, Generalized
Nail dysplasia, Nail dystrophy OMIM:131900
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Onychogryposis OMIM:131960
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Transient Bullous Dermolysis Of The Newborn
Nail dystrophy OMIM:131705
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy
Nail dysplasia, Nail dystrophy OMIM:148360
Pachyonychia Congenita 4
Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma OMIM:615728
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Spinal Muscular Atrophy, Scapuloperoneal
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy OMIM:271220
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy OMIM:131850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Epidermolysis Bullosa Simplex, Dowling-Meara Type
Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:131760
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... ORPHA:79397
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Naegeli-Franceschetti-Jadassohn Syndrome
Dystrophic fingernails, Reticular hyperpigmentation, Diffuse palmoplantar hyperkeratosis, Dystrop... ORPHA:69087
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Hyperkeratosis, Spotty hypopigmentation, Mixed hypo- and hyperpigmentat... ORPHA:79399
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Absent toenail, Absent fingernail, Recurrent loss of toenails and fingernails, Dystrophic toenail... ORPHA:231568
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Nail dysplasia, Plantar hyperkeratosis, Nail dystrophy, Fragile nails OMIM:226650
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Immunodeficiency 40
Lymphopenia OMIM:616433
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Keratoderma Hereditarium Mutilans With Ichthyosis
Onychogryposis, Nail dystrophy, Honeycomb palmoplantar hyperkeratosis ORPHA:79395
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Thin nail, Cafe-au-lait spot, Prem... OMIM:618625
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Nail dysplasia, Alopecia totalis, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:212360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse or absent eyelashes, Dystrophic toen... OMIM:602401
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Palmoplantar hyperkeratosis, Hyperkeratosis, Ridged nail, Hyperpigmentation of th... ORPHA:89838
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy,... OMIM:158000
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Palmoplantar keratoderma, Anonychia, Scarring alopecia of scalp... ORPHA:79402
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Crandall Syndrome
Abnormal testis morphology, Sensorineural hearing impairment, Brittle hair, Alopecia, Aplasia/Hyp... ORPHA:202
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Immunodeficiency 8
Lymphopenia OMIM:615401
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Nail dystrophy OMIM:616029
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Cooks Syndrome
Dystrophic fingernails, Abnormal toenail morphology, Aplastic/hypoplastic toenail, Dystrophic toe... ORPHA:1487
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses ... OMIM:601952
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Candidiasis, Familial, 8
Seborrheic dermatitis, Onychomycosis, Blepharitis OMIM:615527
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Palmoplantar keratoderma, Multinodular goiter OMIM:618373
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Yellow nails, Onycholysis, Palmoplantar keratoderma, Streaks of hy... OMIM:148700
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Anonychia With Flexural Pigmentation
Anonychia, Abnormal hair morphology, Hyperkeratosis, Follicular hyperkeratosis, Alopecia of scalp... ORPHA:69125
Psoriasis 15, Pustular, Susceptibility To
Nail dystrophy OMIM:616106
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymphoproliferative disorder, Decreased proportion of CD3-positive T cells, Decre... ORPHA:276
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Acrokeratosis Verruciformis Of Hopf
Anonychia, Hyperkeratosis, Leukonychia, Punctate palmoplantar hyperkeratosis, Nail dystrophy ORPHA:79151
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Porokeratosis 3, Multiple Types
Nail dystrophy OMIM:175900
Localized Epidermolysis Bullosa Simplex
Focal friction-related palmoplantar hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palma... ORPHA:79400
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Anonychia, Small nail, Nail dystrophy OMIM:124480
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Epidermolysis Bullosa Acquisita
Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphology ORPHA:46487
Odontomicronychial Dysplasia
Short nail, Thin nail, Abnormality of the nail, Slow-growing nails ORPHA:1811
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Hearing impairment, Brittle hair, Alopecia,... ORPHA:2889
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis, Nail dysplasia, Sparse and thin eye... OMIM:607655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy OMIM:618806
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Brittle hair, Cutaneous photosensitivity, Decreased fertility OMIM:616390
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Reticular hyperpigmentation, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:125595
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Björnstad Syndrome
Hypogonadism, Sensorineural hearing impairment, Brittle hair, Alopecia ORPHA:123
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Cutaneous photosensitivity, Spar... OMIM:234030
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Olmsted Syndrome 1
Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopecia univers... OMIM:614594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Flotch Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormality of the eye, Ble... ORPHA:2045
Heimler Syndrome 2
Leukonychia OMIM:616617
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Nail dysplasia, Anonychia, Nail dystrophy OMIM:106990
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Hooft Disease
Leukonychia OMIM:236300
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Clouston Syndrome
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... OMIM:129500
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Parakeratosis, Woolly hair, Nail dystrophy... OMIM:615821
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neuropathy, Hereditary Sensory, Type Id
Nail dysplasia, Nail dystrophy OMIM:613708
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Failure t... OMIM:602450
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Supernumerary nipple, Sparse hair, Nail dystrophy OMIM:275450
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Hypotrichosis 6
Sparse hair, Erythema, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Immunodeficiency 19
Lymphopenia OMIM:615617
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Abnormality of the subungual region, Nail dystrophy ORPHA:79411
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... ORPHA:66661
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Splenomegaly, Recurrent pneumonia, E... OMIM:604173
Pachyonychia Congenita 2
Dry hair, Subungual hyperkeratosis, Sparse scalp hair, Nail dysplasia, Sparse and thin eyebrow, N... OMIM:167210
Odontomicronychial Dysplasia
Short nail, Thin nail, Slow-growing nails OMIM:601319
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma ORPHA:1366
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Hyperkeratosis, Lip hyperpigmentation, Anemia, Parakerato... ORPHA:166113
Late-Onset Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy ORPHA:79406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Osteoporosis
Osteoporosis OMIM:166710
Atrophoderma Vermiculata
Leukonychia OMIM:209700
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Congenital onychodystrophy, Absent e... ORPHA:2890
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Ectropion, Sparse eyelashes, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Bl... OMIM:308800
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Decreased circulating lute... OMIM:228300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Nail dysplasia, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:242300
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Bart-Pumphrey Syndrome
Leukonychia OMIM:149200
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Scarring alopecia of scalp, Nail dysplasia, Anemia, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:226670
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Peeling Skin Syndrome 1
Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture OMIM:270300
Dyskeratosis Congenita, Autosomal Recessive 3
Nail dysplasia, Nail dystrophy OMIM:613988
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short nail ORPHA:973
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Small nail, Anonychia, Hyperkeratotic papule, Abnormal toenail morphology, Nail dystrophy, Abnorm... ORPHA:79410
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
Nail dysplasia, Anonychia, Nail dystrophy OMIM:106995
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym... OMIM:613179
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Conjunctivitis, Cataract, Keratitis, Sparse and thin eyebrow, Blepharitis, Sparse e... OMIM:612843
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo... OMIM:612692
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Ectodermal dysplasia, Sparse scalp hair, Brittle hair OMIM:262020
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, EBV meningitis, Persistent EBV viremia, EBV encephalitis, Decreased... OMIM:615122
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Prominent veins on trunk, Oligomenorrhea, Thin skin, Hepatic steato... ORPHA:79083
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Junctional Epidermolysis Bullosa Inversa
Anonychia, Nail dystrophy ORPHA:79405
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Nai... OMIM:104100
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Peeling Skin Syndrome 4
Hyperkeratosis, Nail dystrophy, Orthokeratosis, Palmoplantar keratoderma OMIM:607936
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Small nail, Nail dystrophy OMIM:181600
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Brittle scalp hair, Fine hair, Macrotia OMIM:600771
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redu... ORPHA:2963
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism ORPHA:2812
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Palmoplantar Keratoderma And Woolly Hair
Palmoplantar keratoderma, Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body ha... OMIM:616099
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Nail Disorder, Nonsyndromic Congenital, 3
Concave nail, Leukonychia OMIM:151600
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Broad nail, Short nail OMIM:220219
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Hypoplastic sweat glands, Orthokeratosis, Nail dystrophy OMIM:617337
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Thin skin, Hepatic steatosis, Xanthomatosis, Coronary artery atheroscler... ORPHA:2348
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Ectodermal dysplasia, Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair ... OMIM:225060
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Pachyonychia Congenita
Onychogryposis of fingernail, Palmoplantar keratoderma, Paronychia, Fingernail dysplasia, Palmar ... ORPHA:2309
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hidrotic ectodermal dysplasia, Sparse hair, Coarse hair, Sensorineural hearing impairment, Brittl... ORPHA:1883
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Progeroid facial appearance, Tiger tail banding, Slow-growing hair, Optic nerve hypo... OMIM:300953
Lelis Syndrome
Vitiligo, Yellow nails, Sparse hair, Perioral hyperpigmentation, Sparse lateral eyebrow, Absent l... ORPHA:140936
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Trichothiodystrophy 3, Photosensitive
Decreased fertility, Brittle hair, Tiger tail banding OMIM:616395
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia, Testicular atrophy, Nail dysplasia, Reticulated skin pigmentation... OMIM:613987
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Hepatosplenomegaly OMIM:162830
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:100976
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Psoriasiform dermatitis, Blepharitis OMIM:616834
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair, Bilateral sensorineural hearing impairment, ... OMIM:616943
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Chondroectodermal Dysplasia With Night Blindness
Abnormal hair morphology, Onychauxis, Hyperconvex fingernails, Congenital onychodystrophy, Hyperc... ORPHA:319195
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Alopecia, Decreased testicular size, Woolly hair, Woolly scalp hair OMIM:601217
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hyp... ORPHA:39041
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Macrotia, Woolly hair, Nail dysplasia, Concave nail, Brittle hair, Optic... OMIM:234050
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Sparse eyelashes OMIM:618535
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Epidermolysis Bullosa, Junctional, Herlitz Type
Nail dysplasia, Nail dystrophy OMIM:226700
Ifap Syndrome 2
Posterior blepharitis, Angular cheilitis, Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Lymphoproliferative disorder, Decreased proportion of CD8-positive T cells, Autoim... ORPHA:911
Split-Hand/Foot Malformation 3
Nail dysplasia, Ridged nail, Nail dystrophy OMIM:246560
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Spotty hypopigmentation, Hirsutism, Synophrys, Nail dysplasia, Low posterior... OMIM:300860
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Sparse axillary hair, Sparse pubic hair, Dystrophic toenail, Dystroph... ORPHA:251393
Sézary Syndrome
Irregular hyperpigmentation, Palmoplantar keratoderma, Abnormal lymphocyte morphology, Lymphadeno... ORPHA:3162
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovasculariz... OMIM:278730
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Pancytopenia, Thrombocytopenia, Nail dysplasia, Reticulated skin pigme... OMIM:613989
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Eosinophilia, Obesity OMIM:248100
Dermatoosteolysis, Kirghizian Type
Nail dysplasia, Nail dystrophy OMIM:221810
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Alpha-Heavy Chain Disease
Hypocalcemia, Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Alopecia, Splenomegaly ORPHA:100025
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Abnormal fingernail morphology, Gastroin... ORPHA:2930
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Abnormality of skin pigmentation, Thick eyebrow ORPHA:2222
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Ectodermal Dysplasia/Skin Fragility Syndrome
Dystrophic fingernails, Sparse hair, Palmoplantar hyperkeratosis OMIM:604536
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa OMIM:614602
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymp... ORPHA:277
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Nail dystrophy OMIM:609057
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Pili Torti, Early-Onset
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:261900
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Weight l... ORPHA:83469
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Acrofacial Dysostosis, Weyers Type