Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipase, member H
Synonyms:
C130037N08Rik,  PLA1B,  mPA-PLA1,  D16Wsu119e,  Lpdlr,  LPDLR

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Liph 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 predicted to be associated to Liph by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Carvajal Syndrome
Woolly hair ORPHA:65282
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Leopard Syndrome 2
Multiple lentigines, Cafe-au-lait spot, Curly hair OMIM:611554
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair ORPHA:1573
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Noonan Syndrome 6
Multiple lentigines, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair, Cafe-au-lait... OMIM:613224
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair... OMIM:615280
Leopard Syndrome 3
Low posterior hairline, Few cafe-au-lait spots, Multiple lentigines, Curly hair OMIM:613707
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Multiple lentigines, Curly hair, Cafe-au-lait spot OMIM:611553
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Noonan Syndrome 8
Hyperpigmentation of the skin, Curly hair OMIM:615355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Smith-Kingsmore Syndrome
Cafe-au-lait spot, Curly hair OMIM:616638
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair ORPHA:457485
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair ORPHA:90368
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho... OMIM:301845
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Noonan Syndrome 4
Sparse eyebrow, Blue irides, High anterior hairline, Curly hair OMIM:610733
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Obesity And Hypopigmentation
Red hair OMIM:620195
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair OMIM:617360
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Hyperpigmentation of the skin, Brittle hair ORPHA:50812
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Noonan Syndrome 14
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair OMIM:619745
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair OMIM:614602
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... OMIM:167210
Acrogeria
Irregular hyperpigmentation, Fine hair ORPHA:2500
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h... OMIM:222470
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... OMIM:304110
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... OMIM:617506
Oculodentodigital Dysplasia
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... ORPHA:2710
Noonan Syndrome 10
Sparse eyebrow, Hyperpigmentation of the skin, Cafe-au-lait spot, Curly hair OMIM:616564
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails ORPHA:3447
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Absent eyelashes, Low posterior hairline, Hyperpigmentation of the skin, Abs... OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Multiple lentigines, Long eyelashes, Hyperpigmentation of the skin, Curly hair... OMIM:607721
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak ORPHA:1520
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, High anterior hairline ORPHA:231137
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair OMIM:616943
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, M... ORPHA:978
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, Trichorrhexis n... ORPHA:634
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Noonan Syndrome 2
Sparse eyebrow, Melanocytic nevus, Low posterior hairline, Hyperpigmentation of the skin, Curly h... OMIM:605275
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Coarse hair, Synophrys OMIM:252930
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair OMIM:256500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... ORPHA:444077
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
Tonne-Kalscheuer Syndrome
Blue irides, Small nail, Fine hair, Concave nail OMIM:300978
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... OMIM:601675
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Abnormality of skin pigmentation, Sparse hair, Fine hair ORPHA:1806
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... OMIM:619950
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Coarse hair, Brittle hair OMIM:219200
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... OMIM:620519
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Costello Syndrome
Curly hair, Concave nail, Hyperpigmentation of the skin, Thin nail, Deep-set nails, Sparse hair, ... OMIM:218040
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... ORPHA:217346
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Coarse hair, Low anterior hairline ORPHA:2095
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplas... ORPHA:3071
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Zttk Syndrome
Broad eyebrow, Sparse eyebrow, Curly hair OMIM:617140
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158310
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow ORPHA:585
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Sparse hair, Fine hair, Low anterior hairline ORPHA:391408
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Revesz Syndrome
Ridged fingernail, Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Sparse hair, Na... OMIM:268130
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, G... ORPHA:1071
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Long eyelashes, Fine hair, Synophrys OMIM:620250
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair ORPHA:1786
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... OMIM:619503
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... OMIM:305100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Brittle hair OMIM:236200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Mongolian blue spot, Low anterior hairline OMIM:618569
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Mottled pigmentation, Brittle hair OMIM:608612
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Reticulated skin ... OMIM:613990
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple ORPHA:1812
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Depigmentation/hyperpigmentation of skin, Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Broad lateral eyebrow, Curly hair ORPHA:500150
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Cardiofaciocutaneous Syndrome
Fine hair, Multiple lentigines, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Ge... ORPHA:1340
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys OMIM:617303
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys OMIM:620072
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Bcard Syndrome
Nail dysplasia, Coarse hair OMIM:612394
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Hypermelanotic macule OMIM:242900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Trisomy 20P
Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,... ORPHA:261318
Koolen-De Vries Syndrome
Abnormality of hair texture, Iris hypopigmentation, Fair hair OMIM:610443
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... ORPHA:2637
Craniolenticulosutural Dysplasia
Forehead hyperpigmentation, Sparse hair, Coarse hair, Brittle hair OMIM:607812
Mucopolysaccharidosis, Type Iiid
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys OMIM:252940
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Abnormalit... ORPHA:920
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... ORPHA:33364
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple ORPHA:261349
Oculodentodigital Dysplasia
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
Weaver Syndrome
Fine hair, Melanocytic nevus, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, General... ORPHA:1896
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thick eyebrow, Hypoplastic sweat glands, Abnormality of hair texture, Abnormality of dermal melan... ORPHA:73223
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot OMIM:613563
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... OMIM:601358
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:234100
Dubowitz Syndrome
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante... ORPHA:235
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair ORPHA:576
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Synophrys ORPHA:581
Marshall-Smith Syndrome
Highly arched eyebrow, Hypertrichosis, Melanocytic nevus, Thick eyebrow, Brittle hair, Sparse hai... OMIM:602535
Orofaciodigital Syndrome Type 1
Alopecia, Sparse hair, Coarse hair, Brittle hair ORPHA:2750
Mucolipidosis Ii Alpha/Beta
Hypopigmentation of the skin, Sparse eyebrow, Sparse hair, Brittle hair OMIM:252500
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Hajdu-Cheney Syndrome
Coarse hair, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairline, Generalized hi... ORPHA:955
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Noonan Syndrome
Coarse hair, Melanocytic nevus, Low posterior hairline, Blue irides, Abnormal hair quantity ORPHA:648
Cockayne Syndrome B
Pigmentary retinopathy, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Spa... OMIM:133540
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair OMIM:309350
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair OMIM:280000
Cockayne Syndrome A
Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmen... OMIM:216400
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Fontaine Progeroid Syndrome
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Low anterior hairline, Low posterior hair... OMIM:612289
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... OMIM:305600
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Neuroocular Syndrome 1
Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Blue irides, Brit... OMIM:619539
Renpenning Syndrome 1
Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Coffin-Lowry Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow OMIM:303600
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Hypoplastic fifth fingernail, Th... OMIM:135900
Cockayne Syndrome
Pigmentary retinopathy, Dry hair, Abnormality of retinal pigmentation, Fine hair ORPHA:191
Ogden Syndrome
Long eyelashes, Sparse eyebrow, Fine hair OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Generalized hypopigmentation, Sparse scalp hair, Fine hair ORPHA:534
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair ORPHA:83617
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair OMIM:210710
Noonan Syndrome 1
Low posterior hairline, Woolly hair, Cafe-au-lait spot OMIM:163950
Witteveen-Kolk Syndrome
High anterior hairline, Fine hair, Medial flaring of the eyebrow, Hyperconvex nail, Fragile nails OMIM:613406
Vascular Ehlers-Danlos Syndrome
Alopecia, Melanocytic nevus, Abnormality of skin pigmentation, Aplasia/Hypoplasia of the eyebrow,... ORPHA:286
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Alström Syndrome
Frontal balding, Fine hair, Hirsutism ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Liph

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Liph.

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

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MGI Allele Allele Type Produced
Liphtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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